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L.2.04.409
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. Genetic tests look for alterations in a person's genes or changes in the level or structure of key proteins coded for by specific genes. Genetic tests can also be used to look at levels of RNA that play a role in certain conditions. Abnormal results on these tests could mean that someone has a genetic disorder.
Several methods can be used for genetic testing:
Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.
The purpose of this policy is to outline what genetic tests are considered medically necessary or investigational. Refer to the General Approach to Genetic Testing medical policy for assistance in evaluating the utility of genetic tests.
I. Genetic testing is considered medically necessary to establish a molecular diagnosis of an inheritable disease when all of the following criteria are met:
The member displays clinical features, or is at direct risk of inheriting the mutation in question (pre-symptomatic); AND
The result of the test will directly impact the treatment being delivered to the member; AND
After history, physical examination, and completion of conventional diagnostic studies, a definitive diagnosis remains uncertain, and one of the following diagnoses is suspected:
Note: If a specific medical policy exists for an inheritable disease listed below, click on the link provided for medical necessity and coverage guidelines.
Achondroplasia (FGFR3)
Adenosine Deaminase Deficiency-Severe Combined Immunodeficiency (ADA-SCID)
Albinism
Alpha-1 antitrypsin deficiency (SERPINA1) – Refer to Genetic Testing for Alpha-1 Antitrypsin Deficiency
Alpha thalassemia/Hb Bart hydrops fetalis syndrome/HbH disease (HBA1/HBA2, alpha globin 1 and alpha globulin 2)
Angelman syndrome (GABRA, SNRPN)
Bannayan-Riley-Ruvalcaba syndrome – Refer to Genetic Testing for PTEN Hamartoma Tumor Syndrome
Beta thalassemia (beta globin)
Bloom syndrome (BLM)
Brugada syndrome
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy)
Canavan disease (ASPA (aspartoacylase A))
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Charcot-Marie Tooth disease (PMP-22)
CHARGE syndrome
Classical lissencephaly
Congenital adrenal hyperplasia/21 hydroxylase deficiency (CYP21A2)
Congenital amegakaryocytic thrombocytopenia
Congenital muscular dystrophy type 1C (MDC1C) (FKRP (Fukutin related protein))
Cowden syndrome - Refer to Genetic Testing for PTEN Hamartoma Tumor Syndrome
Crouzon syndrome (FGFR2, FGFR3)
Cystic fibrosis (CFTR) - Refer to Cystic Fibrosis
Deficiency of interleukin-1 receptor antagonist (IL1RN)
Dentatorubral-pallidoluysian atrophy
Duchenne/Becker muscular dystrophy (dystrophin) - Refer to Genetic Testing for Duchenne and Becker Muscular Dystrophy
Dysferlin myopathy
Ehlers-Danlos syndrome
Emery-Dreifuss muscular dystrophy (EDMD1, 2, and 3)
Fabry disease
Facioscapulohumeral muscular dystrophy (FSHD)
Factor XIII deficiency, congenital
Familial adenomatous polyposis coli (APC) – Refer to Genetic Testing for Lynch Syndrome and Other Inherited Intestinal Polyposis Syndromes
Familial cold urticaria/familial cold autoinflammatory syndrome (CIAS1/NLRP3)
Familial dysautonomia (IKBKAP)
Familial hypocalciuric hypercalcemia
Familial Mediterranean fever (MEFV)
Fanconi anemia (FANCC, FANCD)
Facioscapulohumeral muscular dystrophy (FSHMD1A)
Fragile X syndrome, FRAXA (FMR1) – Refer to Genetic Testing for FMR1 Mutations (including Fragile X Syndrome)
Friedreich's ataxia (FXN (frataxin))
Galactosemia (GALT)
Gaucher disease (GBA (acid beta glucosidase))
Gitelman's syndrome
Hemoglobin E thalassemia
Hemoglobin S and/or C
Hemophilia A/VWF (F8 ( Factor VIII))
Hemophilia B (F9 (Factor IX))
Hereditary amyloidosis (TTR variants)
Hereditary deafness (GJB2, GJB2 (Connexin-26, Connexin-32 ))
Hereditary hemochromatosis (HFE) – Refer to Genetic Testing for Hereditary Hemochromatosis
Hereditary neuropathy with liability to pressure palsies (HNPP)
Hereditary pancreatitis (PRSS1)
Hereditary paraganglioma (SDHD, SDHB)
Hereditary polyposis coli (APC) - Refer to Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes
Hereditary spastic paraplegia 3 (SPG3A) and 4 (SPG4, SPAST)
Huntington's disease (HTT, HD (Huntington))
Hypochondroplasia (FGFR3)
Hyperimmunoglobulin D Syndrome/Mevalonate Kinase Deficiency (MVK)
Hypertrophic cardiomyopathy – Refer to Genetic Testing for Predisposition to Inherited Hypertrophic Cardiomyopathy
Jackson-Weiss syndrome (FGFR2)
Kallmann syndrome (FGFR1)
Kennedy disease (SBMA)
Leber hereditary optic neuropathy (LHON)
Leigh Syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa)
Li-Fraumeni syndrome - Refer to Genetic Testing for Li-Fraumeni Syndrome
Long QT syndrome – Refer to Genetic Testing for Cardiac Ion Channelopathies
Limb girdle muscular dystrophy (LGMD1, LGMD2) (FKRP (Fukutin related protein)) - Refer to
Lynch Syndrome (MLH1, MSH2, MSH6, MSI) - Refer to Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes
Malignant hyperthermia (RYR1)
Maple syrup urine disease (branched chain keto acid dehydrogenase E1)
Marfan’s syndrome (TGFBR1, TGFBR2)
McArdle's disease
Medium chain acyl coA dehydrogenase deficiency (ACADM)
Medullary thyroid carcinoma
MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) (MTTL1, tRNAleu)
Muckle-Wells Syndrome (CIAS1/NLRP3)
Mucolipidosis type IV (MCOLN1, mucolipin 1)
Mucopolysaccharidoses type 1 (MPS-1)
Muenke syndrome (FGFR3)
Multiple endocrine neoplasia type 1
Muscle-Eye-Brain disease (POMGNT1)
MYH-associated polyposis (MYH) - Refer to Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes
Myoclonic epilepsy (MERRF) (MTTK (tRNAlys))
Myotonic dystrophy (DMPK, ZNF-9)
Neimann-Pick disease, type A (SMPD1, sphingomyelin phosphodiesterase)
Neonatal-Onset Multisystem Inflammatory Disease (CIAS1/NLRP3)
Nephrotic syndrome, congenital (NPHS1, NPHS2)f
Neurofibromatosis type 1 (NF1, neurofibromin)
Neurofibromatosis type 2 (Merlin)
Neutropenia, congenital cyclic
Nonsyndromic hearing loss
Oculopharyngeal muscular dystrophy (OPMD)
Peutz-Jeghers syndrome
Phenylketonuria (PAH)
Pfeiffer syndrome (FGFR1)
Prader-Willi-Angelman syndrome (SNRPN, GABRA5, NIPA1, UBE3A, ANCR, GABRA )
Primary dystonia (TOR1A (DYT1))
Pyruvate kinase deficiency (PKD)
Retinoblastoma (Rh)
Rett syndrome (FOXG1, MECP2) – Refer to Genetic Testing for Rett Syndrome
Saethre-Chotzen syndrome (TWIST, FGFR2)
SHOX-related short stature
Smith-Lemli-Opitz syndrome
Spinal muscular atrophy (SMN1, SMN2 )
Spinocerebellar ataxia (SCA types 1, 2, 3 (MJD), 6 (CACNA1A), 7, 8, 10, 17 and DRPLA)
Tay-Sachs disease (HEXA (hexosaminidase A))
Thanatophoric dysplasia (FGFR3)
Trisomy 21 – Refer to Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA
Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TNFRSF1A)
Von Gierke disease (G6PC, Glycogen storage disease, Type 1a)
Von Hippel-Lindau syndrome (VHL)
Walker-Warburg syndrome (POMGNT1)
22q11 deletion syndromes (DCGR (CATCH-22))
II. The genetic tests listed below are considered medically necessary when certain criteria are met. Refer to the specific medical policy listed for medical necessity and coverage guidelines.
Alzheimer's disease – Refer to Genetic Testing for Alzheimer Disease
BCR/ABL1 in Chronic Myelogenous Leukemia – Refer to CR-ABL1 Testing in Chronic Myelogenous Leukemia and Acute Lymphoblastic
BRCAnalysis® – Refer to Genetic Testing for Hereditary Breast/Ovarian Cancer Syndrome (BRCA1/BRCA2)
Breast Cancer IndexSM – Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
Chromosomal Microarray Analysis – Refer to Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
cobas® 4800 BRAF V600 Mutation Test – Refer to BRAF Gene Mutation Testing To Select Melanoma Patients for BRAF Inhibitor Targeted Therapy
COLARIS® test – Refer to Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes
Cologuard - Refer to Analysis of Human DNA in Stool Samples as a Technique for Colorectal Cancer Screening
CYP2D6 genotyping to determine drug metabolizer status for patients being considered for eliglustat or tetrabenazine therapy – Cytochrome P450 Genotype-Guided Treatment Strategy
EndoPredictTM – Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
Epidermal Growth Factor Receptor in non-small cell lung cancer – Refer to Molecular Analysis for Targeted Therapy of Non-Small-Cell Lung Cancer
Genetic testing for infantile and early childhood onset epilepsy syndromes – Refer to Genetic Testing for Epilepsy
KRAS mutation analysis for metastatic colorectal cancer – Refer to KRAS, NRAS, and BRAF Mutation Analysis in Metastatic Colorectal Cancer
MammaPrint® - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
Oncotype DX® Breast Cancer Test – Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
ProsignaTM – Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
III. Genetic testing is considered investigational for the following conditions/diagnoses:
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)
Choroidal neovascularization (e.g., Retnagene)
Coronary artery disease (e.g., the Corus CAD gene expression test) – Refer to
Gene Expression Testing in the Evaluation of Patients with Stable Ischemic Heart Disease
CYP450 genotyping of CYP2C19 for the purpose of aiding in the dosage and choice of clopidogrel – Refer to Cytochrome P450 Genotype-Guided Treatment Strategy
Cytochrome p450 genotyping of CYP2D6 for the purpose of managing treatment with tamoxifen - Refer to Genetic Testing for Tamoxifen Treatment
Dilated cardiomyopathy [CMD1A]
Epidermolytic hyperkatosis
Expanded cancer mutation panels for selecting targeting cancer treatment - Refer to Expanded Molecular Panel Testing of Cancers to Identify Targeted Therapies
Factor V Leiden mutation – Refer to Genetic Testing for Inherited Thrombophilia
Familial amyotrophic lateral sclerosis (SOD1 mutation)
Familial partial lipodystrophy [FPLD2])
Gilbert’s syndrome
Glioblastoma multiforme
H. pylori infection - Refer to Genetic Testing for Helicobacter Pylori Treatment
Hemiplegic migraine (HM)
Hemophilia C (Factor XI)
Klippel-Feil syndrome
KRAS mutation analysis in non-small cell lung cancer - KRAS Mutation Analysis in Non-Small Cell Lung Cancer
Lactose intolerance – Refer to Genetic Testing for Lactase Insufficiency
Malignant melanoma – Refer to Genetic Testing for Familial Cutaneous Malignant Melanoma
Myoclonus-dystonia (epsilon-sarcoglycan gene (SCGE) deletion analysis)
Migrainous vertigo
Osteogenesis imperfecta
Parkinson’s disease
Polycystic kidney disease
Prostate cancer – Refer to Gene-Based Tests for Screening, Detection and/or Management of Prostate Cancer
Prothrombin (Factor II, 20210G> A mutation) – Refer to Genetic Testing for Inherited Thrombophilia
Seizure (e.g., creatine transporter 1 sequencing for testing parents of individuals with seizures)
Sleep-walking
Type 2 diabetes – Refer to Multianalyte Assays with Algorithmic Analyses for Predicting Risk of Type 2 Diabetes
Vitamin K epoxide reductase subunit C1 (VKORC1) - Refer to Genetic Testing for Warfarin Dose
IV. The following tests are considered investigational:
Any genetic test or testing not listed as medically necessary in sections I or II above.
Any home genetic test
AlloMapTM – Refer to Laboratory Tests for Heart Transplant Rejection
BluePrint® - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
BreastNextTM
BreastOncPxTM - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
BreastPRSTM - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
CancerNextTM
CancerTypeID® - Refer to Gene Expression-Based Assays for Cancers of Unknown Primary
CellSearchTM – Refer to Detection of Circulating Tumor Cells in the Management of Patients with Cancer
ColoNextTM
ColoSureTM – Refer to Analysis of Human DNA in Stool Samples as a Technique for Colorectal Cancer Screening
deCODE BreastCancerTM -Refer to Use of Common Genetic Variants (Single Nucleotide Polymorphisms) to Predict Risk of Nonfamilial Breast Cancer deCODE MITM – Refer to Genotyping for 9p21 Single Nucleotide Polymorphisms to Predict Risk of Cardiovascular Disease or Aneurysm
KIF6-StatinCheckTM – Refer to KIF6 Genotyping for Predicting Cardiovascular Risk and/or Effectiveness of Statin Therapy
LPA-Aspirin Check® – Refer to Genetic Testing for Lipoprotein(a) Variant(s) as a Decision Aid for Aspirin Treatment
MammoCheck® - Refer to Analysis of Proteomic Patterns for Early Detection of Cancer
Mammostrat® Breast Cancer Test - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
MiReview mets® - Refer to Gene Expression-Based Assays for Cancers of Unknown Primary
miRInform™ - Refer to Molecular Markers in Fine Needle Aspirates of the Thyroid
MyPRSTM/MyPRS PlusTM
NexCourse® Breast IHC4 - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
Oncotype DX ® Colon Cancer Test – Refer to Multigene Expression Assay for Predicting Recurrence in Colon Cancer
OncoVue® Breast Cancer Risk Test –Refer to Use of Common Genetic Variants (Single Nucleotide Polymorphisms) to Predict Risk of Nonfamilial Breast Cancer
OvaNextTM
PAM50 Breast Cancer Intrinsic ClassifierTM - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
PathFinderTG® Molecular Testing – Refer to Molecular Testing for the Management of Pancreatic Cysts or Barrett Esophagus
Pathwork® Tissue of Origin Test - Refer to Gene Expression-Based Assays for Cancers of Unknown Primary
ProstaCheck® - Refer to Analysis of Proteomic Patterns for Early Detection of Cancer
ScoliScoreTM AIS – Refer to DNA-Based Testing for Adolescent Idiopathic Scoliosis
TargetPrint® - Refer to Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer
Veracyte® - Refer to Molecular Markers in Fine Needle Aspirates of the Thyroid
9p21-EarlyMICheckTM – Refer to Genotyping for 9p21 Single Nucleotide Polymorphisms to Predict Risk of Cardiovascular Disease or Aneurysm
None
The coverage guidelines outlined in the Medical Policy Manual should not be used in lieu of the Member's specific benefit plan language.
Genetic Counseling
Genetic counseling is primarily aimed at patients who are at risk for inherited disorders, and experts recommend formal genetic counseling in most cases when genetic testing for an inherited condition is considered. The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, genetic counseling will assist individuals in understanding the possible benefits and harms of genetic testing, including the possible impact of the information on the individual’s family. Genetic counseling may alter the utilization of genetic testing substantially and may reduce inappropriate testing. Genetic counseling should be performed by an individual with experience and expertise in genetic medicine and genetic testing methods.
Medically Necessary is defined as those services, treatments, procedures, equipment, drugs, devices, items or supplies furnished by a covered Provider that are required to identify or treat a Member's illness, injury or Mental Health Disorders, and which Company determines are covered under this Benefit Plan based on the criteria as follows in A through D:
A. consistent with the symptoms or diagnosis and treatment of the Member's condition, illness, or injury; and
B. appropriate with regard to standards of good medical practice; and
C. not solely for the convenience of the Member, his or her Provider; and
D. the most appropriate supply or level of care which can safely be provided to Member. When applied to the care of an Inpatient, it further means that services for the Member's medical symptoms or conditions require that the services cannot be safely provided to the Member as an Outpatient.
For the definition of medical necessity, “standards of good medical practice” means standards that are based on credible scientific evidence published in peer-reviewed medical literature generally recognized by the relevant medical community, and physician specialty society recommendations, and the views of medical practitioners practicing in relevant clinical areas and any other relevant factors. BCBSMS makes no payment for services, treatments, procedures, equipment, drugs, devices, items or supplies which are not documented to be Medically Necessary. The fact that a Physician or other Provider has prescribed, ordered, recommended, or approved a service or supply does not in itself, make it Medically Necessary.
Investigative is defined as the use of any treatment procedure, facility, equipment, drug, device, or supply not yet recognized as a generally accepted standard of good medical practice for the treatment of the condition being treated and; therefore, is not considered medically necessary. For the definition of Investigative, “generally accepted standards of medical practice” means standards that are based on credible scientific evidence published in peer-reviewed medical literature generally recognized by the relevant medical community, and physician specialty society recommendations, and the views of medical practitioners practicing in relevant clinical areas and any other relevant factors. In order for equipment, devices, drugs or supplies [i.e, technologies], to be considered not investigative, the technology must have final approval from the appropriate governmental bodies, and scientific evidence must permit conclusions concerning the effect of the technology on health outcomes, and the technology must improve the net health outcome, and the technology must be as beneficial as any established alternative and the improvement must be attainable outside the testing/investigational setting.
08/01/2013: New policy added. Approved by Medical Policy Advisory Committee.
11/01/2013: Added the following inheritable diseases as medically necessary for genetic testing: Facioscapulohumeral muscular dystrophy (FSHD), CHARGE syndrome, and Nonsyndromic hearing loss. Added the following tests as investigational: MyPRSTM/MyPRS PlusTM, BreastNextTM, CancerNextTM, ColoNextTM, and OvaNextTM.
02/26/2014: Added the following new 2014 CPT code(s) to the Code Reference section: 81287.
10/30/2014: Genetic testing for CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) changed from investigational to medically necessary. BluePrint®, BreastPRS™, EndoPredict™, Prosigna™, and TargetPrint® added as investigational tests.
12/31/2014: Added the following new 2015 CPT codes to the Code Reference section: 81246, 81288, 81410, 81411, 81430, 81431, 81435, 81436, 81440, 81445, 81450, 81455, 81460, and 81313. Added the following new 2015 HCPCS code to the Code Reference section: G0464. Revised the description of the following CPT codes: 81402, 81403, 81404, and 81405. Effective 01/01/2015.
09/01/2015: Code Reference section updated for ICD-10. Added ICD-9 diagnosis code 255.14, 377.16, and 378.55.
10/09/2015: Code Reference section updated to remove deleted HCPCS codes S3833 and S3834.
12/31/2015: Policy guidelines updated to add medically necessary and investigative definitions. Code Reference section updated to add CPT codes 81162, 81170, 81519 and 81528. Revised code descriptions for the following CPT codes with an effective date of 01/01/2016: 81210, 81275, 81435, 81436, 81445, 81450, 81455, and 81355. Removed deleted HCPCS code S3855 from the investigational codes table.
01/26/2016: Code Reference section updated to add new 2016 CPT code 81276.
02/10/2016: Policy guidelines updated to add genetic counseling information.
04/01/2016: Code Reference section updated to remove CPT codes 81445, 81450, and 81455 from the Covered Codes table.
06/07/2016: Policy number L.2.04.409 added.
09/30/2016: Code Reference section updated to add the following new ICD-10 diagnoses: K85.10, K85.20, K85.30, K85.31, K85.32, and K85.80.
11/22/2016: Code Reference section updated to revise the code description for ICD-10 diagnosis code D68.2.
12/30/2016: Code Reference section updated to add new 2017 CPT codes 81413, 81414, and 81327. Removed deleted HCPCS codes S3854 and S3890.
04/01/2017: Policy section updated to add genetic testing for infantile and early childhood onset epilepsy syndromes as medically necessary. Refer to the Genetic Testing for Epilepsy medical policy for coverage guidelines. Removed GABRG2 mutations and SCN1A deletion test for infantile febrile seizures from investigational criteria. Code Reference section updated to add CPT codes 0001U and 0002U.
08/01/2017: Code Reference section updated to add new CPT code 0016U to the Covered Codes table. Added new CPT codes 0008U, 0009U, 0010U, 0012U, 0013U, 0014U, 0015U, and 0017U to the Investigational Codes table. Code descriptions revised for 81400, 81401, 81403, 81404, and 81406.
09/29/2017: Code Reference section updated to add new CPT codes 0023U and 0019U, effective 10/01/2017. Added CPT code 81218.
12/22/2017: Policy section updated to move Alzheimer's disease, Breast Cancer IndexSM, EndoPredict™, and Prosigna™ from investigational to medically necessary. Code Reference section updated to add CPT code 81219 to the Covered Codes table. Added 81434 to the Investigational Codes table. Removed deleted ICD-10 diagnosis codes K85.0, K85.1, K85.2, K85.3, K85.8, and K85.9. Added new 2018 CPT Codes 81238, 81258, 81259, 81269, 81361, 81362, 81363, 81364, 81448, 81105, 81106, 81107, 81108, 81109, 81110, 81111, 81112, 81120, 81121, 81230, 81231, 81232, 81247, 81248, 81249, 81283, 81328, 81334, 81346. Revised CPT codes 81257, 81400, 81401, 81403, 81404, 81405, and 81406 effective 01/01/2018.
01/25/2018: Code Reference section updated to add new 2018 CPT codes 0028U, 0029U, 0030U, 0031U, 0032U, and 0033U. Removed deleted CPT codes 81280, 81281, and 81282.
03/29/2018: Code Reference section updated to add new CPT codes 0040U, 0012M, 0013M, 0036U, 0037U, and 0039U, effective 04/01/2018.
05/25/2018: Medical policy links updated.
06/29/2018: Code Reference section updated to add new CPT Codes 0046U, 0049U, 0045U, 0048U, 0056U, and 0057U, effective 07/01/2018.
08/15/2018: Policy section updated to add the following as medically necessary: CYP2D6 genotyping to determine drug metabolizer status for patients being considered for eliglustat or tetrabenazine therapy. The following changed from medically necessary to investigational: CYP450 genotyping of CYP2C19 for the purpose of aiding in the dosage and choice of clopidogrel. Code Reference section updated to move CPT code 81225 from covered to investigational.
10/01/2018: Code Reference section updated to move CPT code 81434 from investigational to covered. Added new ICD-10 diagnosis codes G71.00, G71.01, G71.02, G71.09, I67.850, Q93.51, Q93.59, and Q93.82. Added the following new CPT codes to the investigational codes table: 0067U, 0069U, 0070U, 0071U, 0072U, 0073U, 0074U, 0075U, and 0076U.
11/16/2018: Policy section updated to add Cologuard to list of medically necessary tests. Code Reference section updated to move CPT code 81528 from investigational to covered. Removed deleted HCPCS code G0464.
12/20/2018: Code Reference section updated to add new 2019 CPT codes 81163, 81164, 81165, 81166, 81167, 81171, 81172, 81173, 81174, 81177, 81178, 81179, 81180, 81181, 81182, 81183, 81184, 81185, 81186, 81187, 81188, 81189, 81190, 81204, 81234, 81239, 81271, 81274, 81284, 81285, 81286, 81289, 81312, 81329, 81336, 81337, 81343, 81344, and 81345 as covered. Added new 2019 CPT codes 81233, 81236, 81237, 81305, 81306, 81320, and 81333 as investigational. Revised code descriptions for CPT codes 81162, 81212, 81215, 81216, 81217, 81244, 81400, 81401, 81403, 81404, 81405, 81407, 81287, and 81327.
01/15/2019: Policy section updated to change MammaPrint® from investigational to medically necessary. Removed deleted CPT code 0015U.
07/01/2019: Code Reference section updated to add new CPT code 0091U.
09/16/2019: Code Reference section updated to add new ICD-10 diagnosis codes Q79.60, Q79.61, Q79.62, Q79.63, Q79.69, Q87.11, and Q87.19. Added new CPT codes 0011U, 0113U, and 0120U as investigational. Effective 10/01/2019.
10/23/2019: Code Reference section updated to make the following correction: CPT code 0011U changed to 0111U. Removed deleted ICD-10 diagnosis codes G71.0 and Q93.5. Removed ICD-9 diagnosis code 359.1. Removed deleted CPT code 0028U.
12/19/2019: Code Reference section updated to add new CPT codes 0154U, 0157U, 0158U, 0159U, 0160U, 0161U, 0162U, 81277, 81309, 81522, 81552, 0153U, and 81542. Revised code descriptions for CPT codes 81350, 81404, 81406, 81407, and 0008U. Effective 01/01/2020.
03/17/2020: Code Reference section updated to revise description for CPT code 0154U, effective 04/01/2020. Removed deleted CPT codes 81211, 81213, and 81214.
06/25/2020: Code Reference section updated to add new CPT code 0177U, effective 07/01/2020.
09/21/2020: Code Reference section updated to add new CPT codes 0216U, 0217U, 0016M, 0203U, 0205U and ICD-10 diagnosis codes D57.413, D57.418, D57.42, D57.431, D57.432, D57.433, D57.438, D57.439, D57.44, D57.451, D57.452, D57.453, D57.458, D57.459, G11.10, G11.11, and G11.19, effective 10/01/2020.
12/16/2020: Code Reference section updated to add new CPT codes 0230U, 0231U, 0232U, 0233U, 0235U, 0236U, 81279, 81338, 81339, 81347, 81348, 81351, 81352, 81353, 81357, 81360, 0017M, 0229U, 81168, 81191, 81192, 81193, 81194, 81278, and 81554, effective 01/01/2021. Removed deleted ICD-10 diagnosis codes Q79.6, Q87.1 and CPT code 0057U.
07/01/2021: Code Reference section updated to add HCPCS code G0327, effective 01/19/2021.
09/29/2021: Code Reference section updated to add new ICD-10 diagnosis code D55.21. Added new CPT codes 0258U, 0260U, 0264U, 0266U, 0268U, 0269U, 0270U, 0271U, 0272U, 0273U, 0274U, 0276U, 0277U, 0278U, and 0282U as investigational. Effective 10/01/2021.
12/15/2021: Code Reference section updated to add new CPT codes 81523, 0288U, 0289U, 0294U, 0297U, 0298U, 0299U, and 0300U and to revise code descriptions for CPT codes 81228 and 81229, effective 01/01/2022. Removed deleted ICD-10 diagnosis code G11.1.
06/28/2022: Code Reference section updated to revise code descriptions for CPT codes 0016M and 0229U, effective 07/01/2022.
09/21/2022: Code Reference section updated to add new ICD-10 diagnosis codes E34.328, G71.031, G71.032, G71.033, G71.0340, G71.0341, G71.0342, G71.0349, G71.035, G71.038, G71.039, I47.20, I47.21, I47.29, Q85.81, Q85.82, Q85.83, Q85.89 and CPT codes 0332U, 0343U, 0347U, 0348U, 0349U, and 0350U, effective 10/01/2022. Revised code description for CPT code 0276U.
11/07/2022: Policy reviewed. Policy statements unchanged. Code Reference section updated to remove deleted ICD-10 diagnosis code D55.2.
12/19/2022: Code Reference section updated to add new CPT codes 0356U, 0360U, 0362U, and 81441, effective 01/01/2023.
07/01/2023: Code Reference section updated to move CPT codes 81120 and 81121 from the Investigational Codes table to the Covered Codes table. Added new CPT code 0398U as investigational.
09/25/2023: Code Reference section updated to add new ICD-10 diagnosis code E75.28. Revised code range N04.0 - N04.9 to add new ICD-10 diagnosis codes N04.20 and N04.21. Revised code descriptions for ICD-10 diagnosis codes Q85.81, Q87.40, and Q87.43. Revised code descriptions for CPT codes 0269U, 0271U, 0272U, 0274U, 0277U, 0278U, and 0362U. Added new CPT codes 0403U, 0410U, and 0413U. Effective 10/01/2023.
10/18/2023: Policy reviewed. Policy statements unchanged. Code Reference section updated to remove deleted ICD-10 diagnosis code I47.2 and CPT codes 0012U, 0013U, and 0014U.
12/21/2023: Code Reference section updated to revise the code descriptions for CPT codes 81171, 81172, 81243, 81244, 81403, 81404, 81405, 81406, 81407, and 0356U. Removed deleted ICD-10 diagnosis code Q85.8.
03/27/2024: Code Reference section updated to add new CPT code 0448U, effective 04/01/2024.
06/27/2024: Code Reference section updated to add new CPT codes 0020M and 0469U. Effective 07/01/2024. Removed deleted CPT code 0056U.
10/01/2024: Code Reference section updated to add new ICD-10 diagnosis codes D61.03, Q23.81, Q23.82, Q23.88 and new CPT codes 0485U, 0486U, 0487U, 0493U, 0494U, 0496U, 0499U, 0506U, and 0516U. Revised the code description for CPT code 0403U. Removed deleted ICD-10 diagnosis codes N04.2, Q75.0, and Z83.71.
12/05/2024: Policy reviewed; no changes.
12/31/2024: Code Reference section updated to revise description for CPT code 81435 effective 01/01/2025.
04/01/2025: Code Reference section updated to add new CPT codes 0533U and 0537U, effective 04/01/2025.
07/18/2025: Code Reference section updated to add new CPT codes 0559U and 0566U. Effective 07/01/2025.
09/05/2025: Policy section updated to add the following diagnoses as medically necessary when the listed criteria are met: Adenosine Deaminase Deficiency-Severe Combined Immunodeficiency (ADA-SCID), Deficiency of interleukin-1 receptor antagonist (IL1RN), Familial cold urticaria/familial cold autoinflammatory syndrome (CIAS1/NLRP3), Hyperimmunoglobulin D Syndrome/Mevalonate Kinase Deficiency (MVK), Muckle-Wells Syndrome (CIAS1/NLRP3), Neonatal-Onset Multisystem Inflammatory Disease (CIAS1/NLRP3), and Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TNFRSF1A). Removed familial cold urticaria/familial cold autoinflammatory syndrome from investigational statement. Sources updated. Code Reference section updated to add ICD-10 diagnosis codes D81.31, M04.1, M04.2, and M04.8 to the Covered Codes table.
10/01/2025: Code Reference section updated to add new ICD-10 diagnosis codes C50.A0, C50.A1, C50.A2, G71.036, QA0.0102 and CPT codes 0582U and 0583U. Removed deleted ICD-10 diagnosis code Q23.8.
01/01/2026: Code Reference section updated to add new CPT code 81524.
Aetna Clinical Policy Bulletin, Genetic Testing
Blue Cross Blue Shield Association Genetic Testing Policies
Chetrit, E. B. (2025, March 13). Clinical manifestations and diagnosis of familial Mediterranean fever. UpToDate. Retrieved August 13, 2025,
Encoderpro.com
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS) Annals of the Rheumatic Diseases 2017;76:942-947.
National Human Genome Research Institute
Nigrovic, P. A. (2024, July 17). Tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS). UpToDate. Retrieved August 13, 2025.
Padeh Y. C., Rubinstein, A. (2025, February 7). Hyperimmunoglobulin D syndrome: Clinical manifestations and diagnosis. UpToDate. Retrieved August 13, 2025.
U.S. National Library of Medicine Genetics Home Reference
This may not be a comprehensive list of procedure codes applicable to this policy. An appropriate diagnosis code must be reported with the procedure performed.
If a specific medical policy exists for a procedure listed below, refer to the specific medical policy for additional medical necessity and coverage criteria.
Code Number | Description | ||
CPT-4 | |||
0016U | Oncology (hematolymphoid neoplasia), RNA, BCR/ABL1 major and minor breakpoint fusion transcripts, quantitative PCR amplification, blood or bone marrow, report of fusion not detected or detected with quantitation | ||
0023U | Oncology (acute myelogenous leukemia), DNA, genotyping of internal tandem duplication, p.D835, p.I836, using mononuclear cells, reported as detection or non-detection of FLT3 mutation and indication for or against the use of midostaurin | ||
0040U | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis, major breakpoint, quantitative | ||
0046U | FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia) internal tandem duplication (ITD) variants, quantitative | ||
0049U | NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, quantitative | ||
0154U | Oncology (urothelial cancer), RNA, analysis by real-time RT-PCR of the FGFR3 (fibroblast growth factor receptor 3) gene analysis (ie, p.R248C [c.742C>T], p.S249C [c.746C>G], p.G370C [c.1108G>T], p.Y373C [c.1118A>G], FGFR3-TACC3v1, and FGFR3-TACC3v3) utilizing formalin-fixed paraffin-embedded urothelial cancer tumor tissue, reported as FGFR gene alteration status | ||
0157U | APC (APC regulator of WNT signaling pathway) (eg, familial adenomatosis polyposis [FAP]) mRNA sequence analysis (List separately in addition to code for primary procedure) | ||
0158U | MLH1 (mutL homolog 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) mRNA sequence analysis (List separately in addition to code for primary procedure) | ||
0159U | MSH2 (mutS homolog 2) (eg, hereditary colon cancer, Lynch syndrome) mRNA sequence analysis (List separately in addition to code for primary procedure) | ||
0160U | MSH6 (mutS homolog 6) (eg, hereditary colon cancer, Lynch syndrome) mRNA sequence analysis (List separately in addition to code for primary procedure) | ||
0161U | PMS2 (PMS1 homolog 2, mismatch repair system component) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) mRNA sequence analysis (List separately in addition to code for primary procedure) | ||
0162U | Hereditary colon cancer (Lynch syndrome), targeted mRNA sequence analysis panel (MLH1, MSH2, MSH6, PMS2) (List separately in addition to code for primary procedure) | ||
0177U | Oncology (breast cancer), DNA, PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene analysis of 11 gene variants utilizing plasma, reported as PIK3CA gene mutation status | ||
0216U | Neurology (inherited ataxias), genomic DNA sequence analysis of 12 common genes including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants | ||
0217U | Neurology (inherited ataxias), genomic DNA sequence analysis of 51 genes including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants | ||
0230U | AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation), full sequence analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions | ||
0231U | CACNA1A (calcium voltage-gated channel subunit alpha 1A) (eg, spinocerebellar ataxia), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) gene expansions, mobile element insertions, and variants in non-uniquely mappable regions | ||
0232U | CSTB (cystatin B) (eg, progressive myoclonic epilepsy type 1A, Unverricht-Lundborg disease), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions | ||
0233U | FXN (frataxin) (eg, Friedreich ataxia), gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions | ||
0235U | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions | ||
0236U | SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric) (eg, spinal muscular atrophy) full gene analysis, including small sequence changes in exonic and intronic regions, duplications and deletions, and mobile element insertions | ||
81120 | IDH1 (isocitrate dehydrogenase 1 [NADP+], soluble) (eg, glioma), common variants (eg, R132H, R132C) | ||
81121 | IDH2 (isocitrate dehydrogenase 2 [NADP+], mitochondrial) (eg, glioma), common variants (eg, R140W, R172M) | ||
81161 | DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed | ||
81162 | BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis (ie, detection of large gene rearrangements) | ||
81163 | BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis | ||
81164 | BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) | ||
81165 | BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis | ||
81166 | BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) | ||
81167 | BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) | ||
81170 | ABL1 (ABL proto-oncogene 1, non receptor tyrosine kinase) (eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain | ||
81171 | AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | ||
81172 | AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and methylation status) | ||
81173 | AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; full gene sequence | ||
81174 | AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; known familial variant | ||
81177 | ATN1 (atrophin 1) (eg, dentatorubral-pallidoluysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81178 | ATXN1 (ataxin 1) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81179 | ATXN2 (ataxin 2) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81180 | ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81181 | ATXN7 (ataxin 7) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81182 | ATXN8OS (ATXN8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81183 | ATXN10 (ataxin 10) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81184 | CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | ||
81185 | CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; full gene sequence | ||
81186 | CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; known familial variant | ||
81187 | CNBP (CCHC-type zinc finger nucleic acid binding protein) (eg, myotonic dystrophy type 2) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81188 | CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | ||
81189 | CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; full gene sequence | ||
81190 | CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; known familial variant(s) | ||
81200 | ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X) | ||
81201 | APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; full gene sequence | ||
81202 | APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; known familial variants | ||
81203 | APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; duplication/deletion variants | ||
81204 | AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; characterization of alleles (eg, expanded size or methylation status) | ||
81205 | BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, Maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X) | ||
81206 | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative | ||
81207 | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative | ||
81208 | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative | ||
81209 | BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant | ||
81210 | BRAF (Raf proto-oncogene, serine/threonone kinase) (eg, colon cancer, melanoma), gene analysis, V600E variant(s) | ||
81212 | BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants | ||
81215 | BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant | ||
81216 | BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis | ||
81217 | BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant | ||
81218 | CEBPA (CCAAT/enhancer binding protein [IC/EBP], alpha) (eg, acute myeloid leukemia), gene analysis, full gene sequence | ||
81219 | CALR (calreticulin) (eg, myeloproliferative disorders), gene analysis, common variants in exon 9 | ||
81220 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines) | ||
81221 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants | ||
81222 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants | ||
81223 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence | ||
81224 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; intron 8 poly-T analysis (eg, male infertility) | ||
81228 | Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number variants, comparative genomic hybridization [CGH] microarray analysis) | ||
81229 | Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants, comparative genomic hybridization (CGH) microarray analysis | ||
81234 | DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; evaluation to detect abnormal (expanded) alleles | ||
81235 | EGFR (epidermal growth factor receptor) (eg, non-small cell lung cancer) gene analysis, common variants (eg, exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) | ||
81238 | F9 (coagulation factor IX) (eg, hemophilia B) full gene sequence | ||
81239 | DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; characterization of alleles (eg, expanded size) | ||
81242 | FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T) | ||
81243 | FMR1 (fragile X messenger ribonucleoprotein 1) (eg, fragile X syndrome, X-linked intellectual disability [XLID]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | ||
81244 | FMR1 (fragile X messenger ribonucleoprotein 1) (eg, fragile X syndrome, X-linked intellectual disability [XLID]) gene analysis; characterization of alleles (eg, expanded size and promoter methylation status) | ||
81245 | FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; internal tandem duplication (ITD) variants (ie, exons 14, 15) | ||
81246 | FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; tyrosine kinase domain (TKD) variants (eg, D835, I836) | ||
81250 | G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, Type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X) | ||
81251 | GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A) | ||
81252 | GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence | ||
81253 | GJB2 (gap junction protein, beta 2, 26kDa; connexin 26) (eg, nonsyndromic hearing loss) gene analysis; known familial variants | ||
81254 | GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (eg, nonsyndromic hearing loss) gene analysis, common variants (eg, 309kb [del(GJB6-D13S1830)] and 232kb [del(GJB6-D13S1854)]) | ||
81255 | HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) | ||
81256 | HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D) | ||
81257 | HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and Constant Spring) | ||
81258 | HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; known familial variant | ||
81259 | HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; full gene sequence | ||
81260 | IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P) | ||
81261 | IGH@ (Immunoglobulin heavy chain locus) (eg, leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); amplified methodology (eg, polymerase chain reaction) | ||
81262 | IGH@ (Immunoglobulin heavy chain locus) (eg, leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); direct probe methodology (eg, Southern blot) | ||
81263 | IGH@ (Immunoglobulin heavy chain locus) (eg, leukemia and lymphoma, B-cell), variable region somatic mutation analysis | ||
81264 | IGK@ (Immunoglobulin kappa light chain locus) (eg, leukemia and lymphoma, B-cell), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) | ||
81265 | Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing, or maternal cell contamination of fetal cells) | ||
81266 | Comparative analysis using Short Tandem Repeat (STR) markers; each additional specimen (eg, additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition to code for primary procedure) | ||
81267 | Chimerism (engraftment) analysis, post transplantation specimen (eg, hematopoietic stem cell), includes comparison to previously performed baseline analyses; without cell selection | ||
81268 | Chimerism (engraftment) analysis, post transplantation specimen (eg, hematopoietic stem cell), includes comparison to previously performed baseline analyses; with cell selection (eg, CD3, CD33), each cell type | ||
81269 | HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants | ||
81270 | JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant | ||
81271 | HTT (huntingtin) (eg, Huntington disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | ||
81274 | HTT (huntingtin) (eg, Huntington disease) gene analysis; characterization of alleles (eg, expanded size) | ||
81275 | KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis, variants in exon 2 (eg, codons 12 and 13) | ||
81276 | KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis; additional variant(s) (eg, codon 61, codon 146) | ||
81277 | Cytogenomic neoplasia (genome-wide) microarray analysis, interrogation of genomic regions for copy number and loss-of-heterozygosity variants for chromosomal abnormalities | ||
81279 | JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) targeted sequence analysis (eg, exons 12 and 13) | ||
81284 | FXN (frataxin) (eg, Friedreich ataxia) gene analysis; evaluation to detect abnormal (expanded) alleles | ||
81285 | FXN (frataxin) (eg, Friedreich ataxia) gene analysis; characterization of alleles (eg, expanded size) | ||
81286 | FXN (frataxin) (eg, Friedreich ataxia) gene analysis; full gene sequence | ||
81288 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; promoter methylation analysis | ||
81289 | FXN (frataxin) (eg, Friedreich ataxia) gene analysis; known familial variant(s) | ||
81290 | MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) | ||
81292 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | ||
81293 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants | ||
81294 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | ||
81295 | MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | ||
81296 | MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants | ||
81297 | MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | ||
81298 | MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | ||
81299 | MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants | ||
81300 | MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | ||
81301 | Microsatellite instability analysis (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) of markers for mismatch repair deficiency (eg, BAT25, BAT26), includes comparison of neoplastic and normal tissue, if performed | ||
81302 | MECP2 (methyl CpG binding protein 2) (eg Rett syndrome) gene analysis; full sequence analysis | ||
81303 | MECP2 (methyl CpG binding protein 2) (eg Rett syndrome) gene analysis; known familial variant | ||
81304 | MECP2 (methyl CpG binding protein 2) (eg Rett syndrome) gene analysis; duplication/deletion variants | ||
81309 | PIK3CA (phosphatidylinositol-4, 5-biphosphate 3-kinase, catalytic subunit alpha) (eg, colorectal and breast cancer) gene analysis, targeted sequence analysis (eg, exons 7, 9, 20) | ||
81310 | NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, exon 12 variants | ||
81312 | PABPN1 (poly[A] binding protein nuclear 1) (eg, oculopharyngeal muscular dystrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81315 | PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; common breakpoints (eg, intron 3 and intron 6), qualitative or quantitative | ||
81316 | PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; single breakpoint (eg, intron 3, intron 6 or exon 6), qualitative or quantitative | ||
81317 | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | ||
81318 | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants | ||
81319 | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | ||
81321 | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis | ||
81322 | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant | ||
81323 | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant | ||
81324 | PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis | ||
81325 | PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; full sequence analysis | ||
81326 | PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; known familial variant | ||
81329 | SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; dosage/deletion analysis (eg, carrier testing), includes SMN2 (survival of motor neuron 2, centromeric) analysis, if performed | ||
81330 | SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330) | ||
81331 | SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A) (eg, Prader-Willi syndrome and/or Angelman syndrome), methylation analysis | ||
81332 | SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (eg, alpha-1-antitrypsin deficiency), gene analysis, common variants (eg, *S and *Z) | ||
81336 | SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; full gene sequence | ||
81337 | SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; known familial sequence variant(s) | ||
81338 | MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis; common variants (eg, W515A, W515K, W515L, W515R) | ||
81339 | MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis; sequence analysis, exon 10 | ||
81340 | TRB@ (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using amplification methodology (eg, polymerase chain reaction) | ||
81341 | TRB@ (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using direct probe methodology (eg, Southern blot) | ||
81342 | TRG@ (T cell antigen receptor, gamma) (eg, leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) | ||
81343 | PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81344 | TBP (TATA box binding protein) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | ||
81345 | TERT (telomerase reverse transcriptase) (eg, thyroid carcinoma, glioblastoma multiforme) gene analysis, targeted sequence analysis (eg, promoter region) | ||
81347 | SF3B1 (splicing factor [3b] subunit B1) (eg, myelodysplastic syndrome/acute myeloid leukemia) gene analysis, common variants (eg, A672T, E622D, L833F, R625C, R625L) | ||
81348 | SRSF2 (serine and arginine-rich splicing factor 2) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (eg, P95H, P95L) | ||
81350 | UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, drug metabolism, hereditary unconjugated hyperbilirubinemia [Gilbert syndrome]) gene analysis, common variants (eg, *28, *36, *37) | ||
81351 | TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; full gene sequence | ||
81352 | TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; targeted sequence analysis (eg, 4 oncology) | ||
81353 | TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; known familial variant | ||
81357 | U2AF1 (U2 small nuclear RNA auxiliary factor 1) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (eg, S34F, S34Y, Q157R, Q157P) | ||
81360 | ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine-rich 2) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variant(s) (eg, E65fs, E122fs, R448fs) | ||
81361 | HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE) | ||
81362 | HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s) | ||
81363 | HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s) | ||
81364 | HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); full gene sequence | ||
81400 | Molecular pathology procedure, Level 1(eg, identification of single germline variant [eg, SNP] by techniques such as restriction enzyme digestion or melt curve analysis | ||
81401 | Molecular pathology procedure, Level 2 (eg, 2-10 SNPs, 1 methylated variant, or 1 somatic variant [typically using nonsequencing target variant analysis], or detection of a dynamic mutation disorder/triplet repeat) | ||
81402 | Molecular pathology procedure, Level 3 (eg, >10 SNPs, 2-10 methylated variants, or 2-10 somatic variants [typically using non-sequencing target variant analysis], immunoglobulin and T-cell receptor gene rearrangements, duplication/deletion variants of 1 exon, loss of heterozygosity [LOH], uniparental disomy [UPD]) | ||
81403 | Molecular pathology procedure, Level 4 (eg, analysis of single exon by DNA sequence analysis, analysis of >10 amplicons using multiplex PCR in 2 or more independent reactions, mutation scanning or duplication/deletion variants of 2-5 exons) | ||
81404 | Molecular pathology procedure, Level 5 (eg, analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis) | ||
81405 | Molecular pathology procedure, Level 6 (eg, analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis) | ||
81406 | Molecular pathology procedure, Level 7 (eg, analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia) | ||
81407 | Molecular pathology procedure, Level 8 (eg, analysis of 26-50 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of >50 exons, sequence analysis of multiple genes on one platform) | ||
81408 | Molecular pathology procedure, Level 9 (eg, analysis of >50 exons in a single gene by DNA sequence analysis) | ||
81410 | Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK | ||
81411 | Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1 | ||
81413 | Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel, must include sequencing of at least 10 genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A | ||
81414 | Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); duplication/deletion analysis panel, must include analysis of at least 2 genes, including KCNH2 and KCNQ1 | ||
81430 | Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1 | ||
81431 | Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes | ||
81434 | Hereditary retinal disorders (eg, retinal pigmentosa, leber congential amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A | ||
81435 | Hereditary colon cancer-related disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); genomic sequence analysis panel, 5 or more genes, interrogation for sequence variants and copy number variants; genomic sequence analysis panel, must include sequencing of at least 10 genes, including APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, and STK11 (Revised 01/01/2025) | ||
81436 | Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); duplication/deletion analysis panel, must include analysis of at least 5 genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11 (Deleted 12/31/2024) | ||
81440 | Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP | ||
81448 | Hereditary peripheral neuropathies panel (eg, Charcot-Marie-Tooth, spastic paraplegia), genomic sequence analysis panel, must include sequencing of at least 5 peripheral neuropathy-related genes (eg, BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, and SPTLC1) | ||
81460 | Whole mitochondrial genome (eg, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS], myoclonic epilepsy with ragged-red fibers [MERFF], neuropathy, ataxia, and retinitis pigmentosa [NARP], Leber hereditary optic neuropathy [LHON]), genomic sequence, must include sequence analysis of entire mitochondrial genome with heteroplasmy detection | ||
81479 | Unlisted molecular pathology procedure [Name/description of genetic test performed must be provided] | ||
81519 | Oncology (breast), mRNA, gene expression profiling by real-time RT-PCR of 21 genes, utilizing formalin-fixed paraffin embedded tissue, algorithm reported as recurrence score | ||
81522 | Oncology (breast), mRNA, gene expression profiling by RT-PCR of 12 genes (8 content and 4 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as recurrence risk score | ||
81523
| Oncology (breast), mRNA, next-generation sequencing gene expression profiling of 70 content genes and 31 housekeeping genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as index related to risk to distant metastasis
| ||
81528 | Oncology (colorectal) screening, quantitative real-time target and signal amplification of 10 DNA markers (KRAS Mutations, Promoter Methylation of NDRG4 and BMP3) and fecal hemoglobin, utilizing stool, algorithm reported as a positive or negative result | ||
81552 | Oncology (uveal melanoma), mRNA, gene expression profiling by real-time RT-PCR of 15 genes (12 content and 3 housekeeping), utilizing fine needle aspirate or formalin-fixed paraffin-embedded tissue, algorithm reported as risk of metastasis | ||
HCPCS | |||
G0452 | Molecular pathology procedure; physician interpretation and report | ||
S3800 | Genetic testing for amyotrophic lateral sclerosis (ALS) | ||
S3840 | DNA analysis for germline mutations of the RET proto-oncogene for susceptibility to multiple endocrine neoplasia type 2 | ||
S3841 | Genetic testing for retinoblastoma | ||
S3842 | Genetic testing for Von Hippel-Lindau disease | ||
S3844 | DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness | ||
S3845 | Genetic testing for alpha-thalassemia | ||
S3846 | Genetic testing for hemoglobin E beta-thalassemia | ||
S3849 | Genetic testing for Niemann-Pick disease | ||
S3850 | Genetic testing for sickle cell anemia | ||
S3853 | Genetic testing for myotonic muscular dystrophy | ||
S3861 | Genetic testing, sodium channel, voltage-gated, type V, alpha subunit (SCN5A) and variants for suspected Brugada Syndrome | ||
S3865 | Comprehensive gene sequence analysis for hypertrophic cardiomyopathy | ||
S3866 | Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in an individual with a known HCM mutation in the family | ||
S3870 | Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or mental retardation | ||
ICD-9 Procedure | ICD-10 Procedure | ||
ICD-9 Diagnosis | ICD-10 Diagnosis | ||
151.0 - 151.9 | Malignant neoplasm of stomach | C16.0 - C16.9 | Malignant neoplasm of stomach |
152.0 - 152.9 | Malignant neoplasm of small intestine, including duodenum | C17.0 - C17.9 | Malignant neoplasm of small intestine |
153.0 - 154.0 | Malignant neoplasm of colon | C18.0 - C18.9 | Malignant neoplasm of colon |
C19 | Malignant neoplasm of rectosigmoid junction | ||
155.0 - 155.2 | Malignant neoplasm of liver and intrahepatic bile ducts | C22.0 - C22.9 | Malignant neoplasm of liver and intrahepatic bile ducts |
162.2 - 162.9 | Malignant neoplasm of bronchus or lung | C34.00 - C34.92 | Malignant neoplasm of bronchus and lung |
170.0 - 170.9 | Malignant neoplasm of bone and articular cartilage [osteosarcoma] | C40.00 - C40.92 | Malignant neoplasm of bone and articular cartilage of limbs |
C41.0 - C41.9 | Malignant neoplasm of bone and articular of other and unspecified sites | ||
171.0 - 171.9 | Malignant neoplasm of connective and other soft tissue [soft tissue sarcoma] | C47.0 - C47.9 | Malignant neoplasm of peripheral nerves and autonomic nervous system |
C49.0 - C49.9 | Malignant neoplasm of other connective and soft tissue | ||
174.0 - 175.9 | Malignant neoplasm of breast | C50.011 - C50.929 | Malignant neoplasm of breast |
C50.A0, C50.A1, C50.A2 | Malignant inflammatory neoplasm of breast | ||
182.0 - 182.8 | Malignant neoplasm of body of uterus | C54.0 - C54.9 | Malignant neoplasm of corpus uteri |
183.0 | Malignant neoplasm of ovary | C56.1 - C56.9 | Malignant neoplasm of ovary |
188.0 - 188.9 | Malignant neoplasm of bladder | C67.0 - C67.9 | Malignant neoplasm of bladder |
189.1 | Malignant neoplasm of renal pelvis | C65.1 - C65.9 | Malignant neoplasm of renal pelvis |
189.2 | Malignant neoplasm of ureter | C66.1 - C66.9 | Malignant neoplasm of ureter |
190.5 | Malignant neoplasm of retina [retinoblastoma] | C69.20 - C69.22 | Malignant neoplasm of olfactory nerve |
191.0 - 191.9 | Malignant neoplasm of brain [except glioblastoma multiforme] | C71.0 - C71.9 | Malignant neoplasm of brain |
193 | Malignant neoplasm of thyroid gland [medullary thyroid carcinoma] | C73 | Malignant neoplasm of thyroid gland |
194.0 | Malignant neoplasm of adrenal gland [adrenocortical carcinoma] | C74.00 - C74.92 | Malignant neoplasm of adrenal gland |
204.00 - 208.92 | Leukemias | C91.00 - C91.92 | Lymphoid leukemia |
C92.00 - C92.92 | Myeloid leukemia | ||
C93.00 - C93.92 | Monocytic leukemia | ||
C94.00 - C94.82 | Other leukemias of specified cell type | ||
C95.00 - C95.92 | Leukemia of unspecified cell type | ||
211.3 | Benign neoplasm of colon [hereditary polyposis coli] | D12.6 | Benign neoplasm of colon, unspecified [polyposis (hereditary) of colon] |
D81.31 | Severe combined immunodeficiency due to adenosine deaminase deficiency | ||
227.0 | Benign neoplasm of adrenal gland [hereditary paraganglioma] | D35.00 - D35.02 | Benign neoplasm of adrenal gland |
237.71 | Neurofibromatosis, type 1 [von Recklinghausen's disease] [neurofibromin] | Q85.01 | Neurofibromatosis, type 1 |
237.72 | Neurofibromatosis, type 2 [acoustic neurofibromatosis] [Merlin] | Q85.02 | Neurofibromatosis, type 2 |
253.4 | Other anterior pituitary disorders [Kallmann syndrome] | E23.6 | Other disorders of pituitary gland |
255.2 | Adrenogenital disorders [congenital adrenal hyperplasia] | E25.0 | Congenital adrenogenital disorders associated with enzyme deficiency |
258.01 | Multiple endocrine neoplasia [MEN] type I | E31.21 | Multiple endocrine neoplasia [MEN] type I |
E34.328 | Other genetic causes of short stature | ||
259.4 | Dwarfism, not elsewhere classified [hypochondroplasia, thanatophoric dysplasia] | Q77.1, Q77.4 | Thanatophoric short stature (thanatophoric dysplasia), achondroplasia (Hypochondroplasia) |
270.0 | Disturbances of amino-acid transport | E72.00 - E72.09 | Disorders of amino-acid transport |
270.1 | Phenylketonuria | E70.0, E70.1 | Classical phenylketonuria, Other hyperphenylalaninemias |
270.2 | Other disturbances of aromatic amino-acid metabolism [albinism] | E70.30 - E70.39 | Albinism |
270.3 | Disturbances of branched-chain amino-acid metabolism | E71.0 | Maple-syrup-urine disease |
E71.110 - E71.19 | Other disorders of branched-chain amino-acid metabolism | ||
E71.2 | Disorder of branched-chain amino-acid metabolism, unspecified | ||
271.0 | Glycogenosis [McArdle's disease] | E74.04 | McArdle Disease |
271.1 | Galactosemia | E74.21 | Galactosemia |
272.7 | Lipidoses [Fabry/Gaucher (acid beta glucosidase)/Niemann-Pick (sphingomyelin phosphodiesterase)] | E75.21 | Fabry (-Anderson) disease |
E75.22 | Gaucher disease | ||
E75.240 - E75.249 | Niemann-Pick disease | ||
273.4 | Alpha-1-antitrypsin deficiency | E88.01 | Alpha-1-antitrypsin deficiency |
275.01 | Hereditary hemochromatosis | E83.110 | Hereditary hemochromatosis |
255.14 275.2 | Disorders of magnesium metabolism [Gitelman's syndrome] | E26.1 | Secondary hyperaldosteronism |
275.42 | Hypercalcemia (familial hypocalciuric) | E83.52 | Hypercalcemia |
277.00 - 277.09 | Cystic fibrosis | E84.0 - E84.9 | Cystic fibrosis |
277.39 | Other amyloidosis [hereditary amyloidosis] | E85.2 | Heredofamilial amyloidosis, unspecified |
277.5 | Mucopolysaccharidosis | E76.01 - E76.9 | Disorders of glycosaminoglycan metabolism |
277.85 | Disorders of fatty acid oxidation [Medium chain acyl CoA dehydrogenase deficiency (MCAD)] | E71.311 | Medium chain acyl CoA dehydrogenase deficiency |
277.87 | Disorders of mitochondrial metabolism [MELAS (mitochondrial encephalopathy) (MTTL1, tRNAleu)] | E88.41 | MELAS Syndrome |
282.3 | Other hemolytic anemias due to enzyme deficiency [pyruvate kinase deficiency (PKD)] | D55.21 | Anemia due to pyruvate kinase deficiency |
282.40 - 282.49 | Thalassemias [alpha globin/beta globin/hemoglobin E] | D56.0 | Alpha thalassemia |
D56.1 | Beta thalassemia | ||
D56.2 | Delta-beta thalassemia | ||
D56.3 | Thalassemia minor | ||
D56.5 | Hemoglobin E-beta thalassemia | ||
D57.40 - D57.419, D57.431, D57.432, D57.433, D57.438, D57.439, D57.44, D57.451, D57.452, D57.453, D57.458, D57.459 | Sickle-cell thalassemia | ||
282.5 | Sickle-cell trait [hemoglobin S] | D57.3 | Sickle-cell trait |
282.7 | Other hemoglobinopathies [hemoglobin C] | D56.4 | Hereditary persistence of fetal hemoglobin [HPFH] |
D58.2 | Other hemoglobinopathies | ||
D61.03 | Fanconi anemia | ||
284.09 | Other constitutional aplastic anemia [Fanconi anemia] | D61.09 | Other constitutional aplastic anemia |
286.0 | Congenital factor VIII disorder | D66 | Hereditary factor VIII deficiency |
286.1 | Congenital factor IX disorder | D67 | Hereditary factor IX deficiency |
286.3 | Congenital deficiency of other clotting factors [factor XIII] | D68.2 | Hereditary deficiency of other clotting factors |
287.33 | Congenital and hereditary thrombocytopenia [amegakaryocytic] | D69.42 | Congenital and hereditary thrombocytopenia purpura |
288.01 | Congenital neutropenia [cyclic] | D70.0 | Congenital agranulocytosis |
288.02 | Cyclic neutropenia [congenital] | D70.4 | Cyclic neutropenia |
299.00 - 299.01 | Autistic disorder | F84.0 | Autistic disorder |
315.00 - 315.9 | Specific delays in development | F80.0 - F80.9 | Specific developmental disorders of speech and language |
F82 | Specific developmental disorder of motor function | ||
F88 | Other disorders of psychological development | ||
317 - 319 | Mental retardation | F72 | Severe intellectual disabilities |
F73 | Profound intellectual disabilities | ||
E75.28 | Canavan disease | ||
330.0 | Leukodystrophy [Canavan disease] | E75.29 | Other sphingolipidosis |
330.1 | Cerebral lipidoses [Tay-Sachs disease] | E75.02 | Tay-Sachs disease |
330.8 | Other specified cerebral degenerations in childhood [Rett syndrome, Leigh syndrome] | F84.2 | Rett's syndrome |
G31.82 | Leigh's disease | ||
333.4 | Huntington's chorea | G10 | Huntington's disease |
333.6 | Genetic torsion dystonia | G24.1 | Genetic torsion dystonia |
334.0, 334.3 | Friedreich's ataxia, Other cerebellar ataxia [spinocerebellar ataxia] | G11.10, G11.19 | Early-onset cerebellar ataxia |
G11.11 | Friedreich ataxia | ||
334.1 | Hereditary spastic paraplegia | G11.4 | Hereditary spastic paraplegia |
334.8 | Other spinocerebellar diseases [spinocerebellar ataxia] | G11.3, G11.8 | Cerebellar ataxia with defective DNA repair, Other hereditary ataxias |
335.10 - 335.19 | Spinal muscular atrophy [Kennedy disease] | G12.1 | Other inherited spinal muscular atrophy |
G12.8 | Other spinal muscular atrophies and related syndromes | ||
G12.9 | Spinal muscular atrophy, unspecified | ||
345.10 - 345.11 | Generalized convulsive epilepsy [myoclonic epilepsy] | G40.309, G40.311 | Generalized idiopathic epilepsy and epileptic syndromes code range |
G40.319 | Generalized idiopathic epilepsy and epileptic syndromes, intractable, without status epilepticus | ||
G40.401 | Other generalized epilepsy and epileptic syndromes, not intractable, with status epilepticus | ||
G40.409 | Other generalized epilepsy and epileptic syndromes, not intractable, without status epilepticus | ||
G40.411 | Other generalized epilepsy and epileptic syndromes, intractable, with status epilepticus | ||
G40.419 | Other generalized epilepsy and epileptic syndromes, intractable, without status epilepticus | ||
356.1 | Peroneal muscular atrophy [Charcot-Marie-Tooth disease] | G60.0 | Hereditary motor and sensory neuropathy |
356.2 | Hereditary sensory neuropathy | G60.0 | Hereditary motor and sensory neuropathy |
G71.00 | Muscular dystrophy, unspecified | ||
G71.01 | Duchenne or Becker muscular dystrophy | ||
G71.02 | Facioscapulohumeral muscular dystrophy | ||
G71.031, G71.032, G71.033, G71.0340, G71.0341, G71.0342, G71.0349, G71.035, G71.036, G71.038, G71.039 | Limb girdle muscular dystrophy | ||
G71.09 | Other specified muscular dystrophies | ||
359.21 - 359.29 | Myotonic disorders [myotonic dystrophy] | G71.11 - G71.19 | Myotonic disorders |
359.89 | Other myopathies [dysferlin] | G71.8 | Other primary disorders of muscles |
G72.89 | Other specified myopathies | ||
362.74 | Pigmentary retinal dystrophy [retinitis pigmentosa] | H35.52 | Pigmentary retinal dystrophy |
377.16 | Hereditary optic atrophy | H47.22 | Hereditary optic atrophy (Leber's optic atrophy) |
377.39 | Other optic neuritis [Leber hereditary optic neuropathy] | H46.8 | Other optic neuritis |
378.55 | Paralytic strabismus, external ophthalmoplegia | H49.40 - H49.43 | Progressive external ophthalmoplegia |
389.00 - 389.9 | Hearing loss [hereditary] | H90.0 - H90.8 | Conductive and sensorineural hearing loss |
H91.8X1 - H91.8X9 | Other specified hearing loss | ||
425.11 - 425.18 | Hypertrophic cardiomyopathy | I42.1 | Obstructive hypertrophic cardiomyopathy |
I42.2 | Other hypertrophic cardiomyopathy | ||
426.82 | Long QT syndrome | I45.81 | Long QT syndrome |
427.1 | Paroxysmal ventricular tachycardia [persons that display exercise- or emotion-induced polymorphic ventricular tachycardia or ventricular fibrillation, occurring in a structurally normal heart] | I47.20, I47.21, I47.29 | Ventricular tachycardia |
427.41 | Ventricular fibrillation | I49.01 | Ventricular fibrillation |
427.5 | Cardiac arrest | I46.2 - I46.9 | Cardiac arrest |
I67.850 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ||
577.0 | Acute pancreatitis [unexplained episode in a child requiring hospitalization with significant concern that hereditary pancreatitis should be excluded] | K85.10, K85.20, K85.30, K85.31, K85.32, K85.80 | Acute pancreatitis
|
577.1 | Chronic pancreatitis [unexplained (idiopathic) for hereditary pancreatitis] | K86.1 | Other chronic pancreatitis |
M04.1 | Periodic fever syndromes | ||
M04.2 | Cryopyrin-associated periodic syndromes | ||
M04.8 | Other autoinflammatory syndromes | ||
581.0 - 581.9 | Nephrotic syndrome [congenital] | N04.0, N04.1, N04.20, N04.21, N04.3 - N04.9 | Nephrotic syndrome |
742.2 | Reduction deformities of brain [classical lissencephaly] | Q04.3 | Other reduction deformities of brain |
742.8 | Other specified congenital anomalies of nervous system [familial dysautonomia] | G90.1 | Familial dysautonomia [Riley-Day] |
746.89 | Other specified congenital anomaly of heart [Brugada syndrome] | Q23.81, Q23.82, Q23.88 | Other congenital malformations of aortic and mitral valves |
Q23.9 | Congenital malformation of aortic and mitral valves, unspecified | ||
Q24.8 | Other specified congenital malformations of heart | ||
755.55 | Acrocephalosyndactyly [Pfeiffer syndrome] | Q87.0 | Congenital malformation syndromes predominantly affecting facial appearance |
756.0 | Anomalies of skull and face bones [Crouzon syndrome, Saethre-Chotzen syndrome] | Q75.001 - Q75.9 | Other congenital malformations of skull and face bones |
756.4 | Chondrodystrophy [achondroplasia] | Q77.4 | Achondroplasia |
756.83 | Ehlers-Danlos syndrome | Q79.60, Q79.61, Q79.62, Q79.63, Q79.69 | Ehlers-Danlos syndrome |
756.89 | Other specified anomalies of muscle, tendon, fascia, and connective tissue [Jackson-Weiss syndrome] [Muencke syndrome] | Q79.8 | Other congenital malformations of musculoskeletal system |
757.39 | Other specified congenital anomalies of skin [Bloom syndrome] | Q82.8 | Other specified congenital malformations of skin |
Q93.51 | Angelman syndrome | ||
Q93.59 | Other deletions of part of a chromosome | ||
758.32 | Velo-cardio-facial syndrome [22q11 deletion syndrome (CATCH-22)] | Q93.81 | Velo-cardio-facial syndrome |
Q93.82 | Williams syndrome | ||
759.6 | Other hamartoses, not elsewhere classified [Von Hippel Lindau syndrome (VHL)] | Q85.81 | PTEN hamartoma tumor syndrome |
Q85.82 | Other Cowden syndrome | ||
Q85.83 | Von Hippel-Lindau syndrome | ||
Q85.89 | Other phakomatoses, not elsewhere classified | ||
759.81 | Prader-Willi syndrome | Q87.11 | Prader-Willi syndrome |
Q87.19 | Other congenital malformation syndromes predominantly associated with short stature | ||
759.82 | Marfan syndrome | Q87.40 - Q87.43 | Marfan syndrome |
759.83 | Fragile X syndrome | Q99.2 | Fragile X chromosome |
QA0.0102 | CACNA1A-related neurodevelopmental disorder | ||
759.89 | Other specified anomalies [Angelman syndrome (GABRA, SNRPN) Smith-Lemli-Opitz syndrome] | E78.72 | Smith-Lemli-Opitz syndrome |
783.43 | Short stature [SHOX-related] | R62.52 | Short stature (child) |
790.5 | Other nonspecific abnormal serum enzyme levels [hyper-amylasemia] | R74.8 | Abnormal levels of other serum enzymes |
995.86 | Malignant hyperthermia | T88.3XXA | Malignant hyperthermia |
V10.05 | Personal history of malignant neoplasm of large intestine | Z85.038 | Personal history of other malignant neoplasm of large intestine |
V10.06 | Personal history of malignant neoplasm of rectum, rectosigmoid junction, and anus | Z85.048 | Personal history of other malignant neoplasm of rectum, rectosigmoid junction, and anus |
V12.53 | Personal history of sudden cardiac arrest | Z86.74 | Personal history of sudden cardiac arrest |
V16.0 | Family history of malignant neoplasm of gastrointestinal tract | Z80.0 | Family history of malignant neoplasm of digestive organs |
V17.41 | Family history of sudden cardiac death [SCD] | Z82.41 | Family history of sudden cardiac death |
V17.49 | Family history of other cardiovascular diseases | Z82.49 | Family history of ischemic heart disease and other diseases of the circulatory system |
V18.4 | Family history of mental retardation | Z81.0 | Family history of intellectual disabilities |
V18.51 | Family history, colonic polyps | ||
V18.9 | Family history of genetic disease carrier | Z84.81 | Family history of carrier of genetic disease |
V26.31 | Testing of female for genetic disease carrier status | Z31.430 | Encounter of female for testing for genetic disease carrier status for procreative management |
V26.34 | Testing of male for genetic disease carrier status | Z31.440 | Encounter of male for testing for genetic disease carrier status for procreative management |
V77.6 | Special screening for cystic fibrosis | Z13.228 | Encounter for screening for other metabolic disorders |
V83.01 - V83.02 | Hemophilia A carrier | Z14.01 | Asymptomatic hemophilia A carrier |
Z14.02 | Symptomatic hemophilia A carrier | ||
V83.81 | Cystic fibrosis gene carrier | Z14.1 | Cystic fibrosis carrier |
Code Number | Description |
CPT-4 | |
0012M | Oncology (urothelial), mRNA, gene expression profiling by real-time quantitative PCR of five genes (MDK, HOXA13, CDC2 [CDK1], IGFBP5, and XCR2), utilizing urine, algorithm reported as a risk score for having urothelial carcinoma |
0013M | Oncology (urothelial), mRNA, gene expression profiling by real-time quantitative PCR of five genes (MDK, HOXA13, CDC2 [CDK1], IGFBP5, and CXCR2), utilizing urine, algorithm reported as a risk score for having recurrent urothelial carcinoma |
0016M | Oncology (bladder), mRNA, microarray gene expression profiling of 219 genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as molecular subtype (luminal, luminal infiltrated, basal, basal claudin-low, neuroendocrine-like) |
0017M | Oncology (diffuse large B-cell lymphoma [DLBCL]), mRNA, gene expression profiling by fluorescent probe hybridization of 20 genes, formalin-fixed paraffin-embedded tissue, algorithm reported as cell of origin |
0020M | Oncology (central nervous system), analysis of 30000 DNA methylation loci by methylation array, utilizing DNA extracted from tumor tissue, diagnostic algorithm reported as probability of matching a reference tumor subclass |
0001U | Red blood cell antigen typing, DNA, human erythrocyte antigen gene analysis of 35 antigens from 11 blood groups, utilizing whole blood, common RBC alleles reported |
0002U | Oncology (colorectal), quantitative assessment of three urine metabolites (ascorbic acid, succinic acid and carnitine) by liquid chromatography with tandem mass spectrometry (LC-MS/MS) using multiple reaction monitoring acquisition, algorithm reported as likelihood of adenomatous polyps |
0008U | Helicobacter pylori detection and antibiotic resistance, DNA, 16S and 23S rRNA, gyrA, pbp1, rdxA and rpoB, next generation sequencing, formalin-fixed paraffin-embedded or fresh tissue or fecal sample, predictive, reported as positive or negative for resistance to clarithromycin, fluoroquinolones, metronidazole, amoxicillin, tetracycline, and rifabutin |
0009U | Oncology (breast cancer), ERBB2 (HER2) copy number by FISH, tumor cells from formalin fixed paraffin embedded tissue isolated using image-based dielectrophoresis (DEP) sorting, reported as ERBB2 gene amplified or non-amplified |
0010U | Infectious disease (bacterial), strain typing by whole genome sequencing, phylogenetic-based report of strain relatedness, per submitted isolate |
0017U | Oncology (hematolymphoid neoplasia), JAK2 mutation, DNA, PCR amplification of exons 12-14 and sequence analysis, blood or bone marrow, report of JAK2 mutation not detected or detected |
0019U | Oncology, RNA, gene expression by whole transcriptome sequencing, formalin-fixed paraffin embedded tissue or fresh frozen tissue, predictive algorithm reported as potential targets for therapeutic agents |
0029U | Drug metabolism (adverse drug reactions and drug response), targeted sequence analysis (ie, CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, SLCO1B1, VKORC1 and rs12777823) |
0030U | Drug metabolism (warfarin drug response), targeted sequence analysis (ie, CYP2C9, CYP4F2, VKORC1, rs12777823) |
0031U | CYP1A2 (cytochrome P450 family 1, subfamily A, member 2) (eg, drug metabolism) gene analysis, common variants (ie, *1F, *1K, *6, *7) |
0032U | COMT (catechol-O-methyltransferase)(drug metabolism) gene analysis, c.472G>A (rs4680) variant |
0033U | HTR2A (5-hydroxytryptamine receptor 2A), HTR2C (5-hydroxytryptamine receptor 2C) (eg, citalopram metabolism) gene analysis, common variants (ie, HTR2A rs7997012 [c.614-2211T>C], HTR2C rs3813929 [c.-759C>T] and rs1414334 [c.551-3008C>G]) |
0036U | Exome (ie, somatic mutations), paired formalin-fixed paraffin-embedded tumor tissue and normal specimen, sequence analyses |
0037U | Targeted genomic sequence analysis, solid organ neoplasm, DNA analysis of 324 genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational burden |
0039U | Deoxyribonucleic acid (DNA) antibody, double stranded, high avidity |
0045U | Oncology (breast ductal carcinoma in situ), mRNA, gene expression profiling by real-time RT-PCR of 12 genes (7 content and 5 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as recurrence score |
0048U | Oncology (solid organ neoplasia), DNA, targeted sequencing of protein-coding exons of 468 cancer-associated genes, including interrogation for somatic mutations and microsatellite instability, matched with normal specimens, utilizing formalin-fixed paraffin-embedded tumor tissue, report of clinically significant mutation(s) |
0067U | Oncology (breast), immunohistochemistry, protein expression profiling of 4 biomarkers (matrix metalloproteinase-1 [MMP-1], carcinoembryonic antigen-related cell adhesion molecule 6 [CEACAM6], hyaluronoglucosaminidase [HYAL1], highly expressed in cancer protein [HEC1]), formalin-fixed paraffin-embedded precancerous breast tissue, algorithm reported as carcinoma risk score |
0069U | Oncology (colorectal), microRNA, RT-PCR expression profiling of miR-31-3p, formalin-fixed paraffin-embedded tissue, algorithm reported as an expression score |
0070U | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, common and select rare variants (ie, *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14A, *14B, *15, *17, *29, *35, *36, *41, *57, *61, *63, *68, *83, *xN) |
0071U | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, full gene sequence (List separately in addition to code for primary procedure) |
0072U | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, CYP2D6-2D7 hybrid gene) (List separately in addition to code for primary procedure) |
0073U | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, CYP2D7-2D6 hybrid gene) (List separately in addition to code for primary procedure) |
0074U | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, non-duplicated gene when duplication/multiplication is trans) (List separately in addition to code for primary procedure) |
0075U | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, 5’ gene duplication/multiplication) (List separately in addition to code for primary procedure) |
0076U | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism) gene analysis, targeted sequence analysis (ie, 3’ gene duplication/ multiplication) (List separately in addition to code for primary procedure) |
0091U | Oncology (colorectal) screening, cell enumeration of circulating tumor cells, utilizing whole blood, algorithm, for the presence of adenoma or cancer, reported as a positive or negative result |
0111U | Oncology (colon cancer), targeted KRAS (codons 12, 13, and 61) and NRAS (codons 12, 13, and 61) gene analysis utilizing formalin-fixed paraffin-embedded tissue |
0113U | Oncology (prostate), measurement of PCA3 and TMPRSS2-ERG in urine and PSA in serum following prostatic massage, by RNA amplification and fluorescence-based detection, algorithm reported as risk score |
0120U | Oncology (B-cell lymphoma classification), mRNA, gene expression profiling by fluorescent probe hybridization of 58 genes (45 content and 13 housekeeping genes), formalin-fixed paraffin-embedded tissue, algorithm reported as likelihood for primary mediastinal B-cell lymphoma (PMBCL) and diffuse large B-cell lymphoma (DLBCL) with cell of origin subtyping in the latter |
0153U | Oncology (breast), mRNA, gene expression profiling by next-generation sequencing of 101 genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a triple negative breast cancer clinical subtype(s) with information on immune cell involvement |
0203U | Autoimmune (inflammatory bowel disease), mRNA, gene expression profiling by quantitative RT-PCR, 17 genes (15 target and 2 reference genes), whole blood, reported as a continuous risk score and classification of inflammatory bowel disease aggressiveness
|
0205U | Ophthalmology (age-related macular degeneration), analysis of 3 gene variants (2 CFH gene, 1 ARMS2 gene), using PCR and MALDI-TOF, buccal swab, reported as positive or negative for neovascular age-related macular-degeneration risk associated with zinc supplements
|
0229U | BCAT1 (Branched chain amino acid transaminase
1) and IKZF1 (IKAROS family zinc finger 1) (eg, colorectal cancer) promoter methylation analysis
|
0258U | Autoimmune (psoriasis), mRNA, next-generation sequencing, gene expression profiling of 50-100 genes, skin-surface collection using adhesive patch, algorithm reported as likelihood of response to psoriasis biologics |
0260U | Rare diseases (constitutional/heritable disorders), identification of copy number variations, inversions, insertions, translocations, and other structural variants by optical genome mapping |
0264U | Rare diseases (constitutional/heritable disorders), identification of copy number variations, inversions, insertions, translocations, and other structural variants by optical genome mapping |
0266U | Unexplained constitutional or other heritable disorders or syndromes, tissue-specific gene expression by whole-transcriptome and next-generation sequencing, blood, formalin-fixed paraffin-embedded (FFPE) tissue or fresh frozen tissue, reported as presence or absence of splicing or expression changes |
0268U | Hematology (atypical hemolytic uremic syndrome [aHUS]), genomic sequence analysis of 15 genes, blood, buccal swab, or amniotic fluid |
0269U | Hematology (autosomal dominant congenital thrombocytopenia), genomic sequence analysis of 22 genes, blood, buccal swab, or amniotic fluid |
0270U | Hematology (congenital coagulation disorders), genomic sequence analysis of 20 genes, blood, buccal swab, or amniotic fluid |
0271U | Hematology (congenital neutropenia), genomic sequence analysis of 24 genes, blood, buccal swab, or amniotic fluid |
0272U | Hematology (genetic bleeding disorders), genomic sequence analysis of 60 genes and duplication/deletion of PLAU, blood, buccal swab, or amniotic fluid, comprehensive |
0273U | Hematology (genetic hyperfibrinolysis, delayed bleeding), genomic sequence analysis of 8 genes (F13A1, F13B, FGA, FGB, FGG, SERPINA1, SERPINE1, SERPINF2, PLAU), blood, buccal swab, or amniotic fluid |
0274U | Hematology (genetic platelet disorders), genomic sequence analysis of 62 genes and duplication/deletion of PLAU, blood, buccal swab, or amniotic fluid |
0276U | Hematology (inherited thrombocytopenia), genomic sequence analysis of 42 genes, blood, buccal swab, or amniotic fluid |
0277U | Hematology (genetic platelet function disorder), genomic sequence analysis of 40 genes and duplication/deletion of PLAU, blood, buccal swab, or amniotic fluid |
0278U | Hematology (genetic thrombosis), genomic sequence analysis of 14 genes, blood, buccal swab, or amniotic fluid |
0282U | Red blood cell antigen typing, DNA, genotyping of 12 blood group system genes to predict 44 red blood cell antigen phenotypes |
0288U
| Oncology (lung), mRNA, quantitative PCR analysis of 11 genes (BAG1, BRCA1, CDC6, CDK2AP1, ERBB3, FUT3, IL11, LCK, RND3, SH3BGR, WNT3A) and 3 reference genes (ESD, TBP, YAP1), formalin-fixed paraffin-embedded (FFPE) tumor tissue, algorithmic interpretation reported as a recurrence risk score
|
0289U | Oncology (lung), mRNA, quantitative PCR analysis of 11 genes (BAG1, BRCA1, CDC6, CDK2AP1, ERBB3, FUT3, IL11, LCK, RND3, SH3BGR, WNT3A) and 3 reference genes (ESD, TBP, YAP1), formalin-fixed paraffin-embedded (FFPE) tumor tissue, algorithmic interpretation reported as a recurrence risk score
|
0294U | Longevity and mortality risk, mRNA, gene expression profiling by RNA sequencing of 18 genes, whole blood, algorithm reported as predictive risk score |
0297U | Oncology (pan tumor), whole genome sequencing of paired malignant and normal DNA specimens, fresh or formalin-fixed paraffin-embedded (FFPE) tissue, blood or bone marrow, comparative sequence analyses and variant identification |
0298U | Oncology (pan tumor), whole transcriptome sequencing of paired malignant and normal RNA specimens, fresh or formalin-fixed paraffin-embedded (FFPE) tissue, blood or bone marrow, comparative sequence analyses and expression level and chimeric transcript identification
|
0299U | Oncology (pan tumor), whole genome optical genome mapping of paired malignant and normal DNA specimens, fresh frozen tissue, blood, or bone marrow, comparative structural variant identification |
0300U | Oncology (pan tumor), whole genome sequencing and optical genome mapping of paired malignant and normal DNA specimens, fresh tissue, blood, or bone marrow, comparative sequence analyses and variant identification |
0332U
| Oncology (pan-tumor), genetic profiling of 8 DNA-regulatory (epigenetic) markers by quantitative polymerase chain reaction (qPCR), whole blood, reported as a high or low probability of responding to immune checkpoint–inhibitor therapy
|
0343U | Oncology (prostate), exosome-based analysis of 442 small noncoding RNAs (sncRNAs) by quantitative reverse transcription polymerase chain reaction (RT-qPCR), urine, reported as molecular evidence of no-, low-, intermediate- or high-risk of prostate cancer |
0347U | Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 16 gene report, with variant analysis and reported phenotypes |
0348U | Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 25 gene report, with variant analysis and reported phenotypes |
0349U | Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 27 gene report, with variant analysis, including reported phenotypes and impacted gene-drug interactions |
0350U | Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 27 gene report, with variant analysis and reported phenotypes |
0356U | Oncology (oropharyngeal or anal), evaluation of 17 DNA biomarkers using droplet digital PCR (ddPCR), cell-free DNA, algorithm reported as a prognostic risk score for cancer recurrence |
0360U | Oncology (lung), enzyme-linked immunosorbent assay (ELISA) of 7 autoantibodies (p53, NY-ESO-1, CAGE, GBU4-5, SOX2, MAGE A4, and HuD), plasma, algorithm reported as a categorical result for risk of malignancy |
0362U | Oncology (papillary thyroid cancer), gene-expression profiling via targeted hybrid capture–enrichment RNA sequencing of 82 content genes and 10 housekeeping genes, fine needle aspirate or formalin-fixed paraffin embedded (FFPE) tissue, algorithm reported as one of three molecular subtypes |
0398U | Gastroenterology (Barrett esophagus), P16, RUNX3, HPP1, and FBN1 DNA methylation analysis using PCR, formalin-fixed paraffin-embedded (FFPE) tissue, algorithm reported as risk score for progression to high-grade dysplasia or cancer
|
0403U | Oncology (prostate), mRNA, gene expression profiling of 18 genes, first-catch urine, algorithm reported as percentage of likelihood of detecting clinically significant prostate cancer (Revised 10/01/2024)
|
0410U | Oncology (pancreatic), DNA, whole genome sequencing with 5-hydroxymethylcytosine enrichment, whole blood or plasma, algorithm reported as cancer detected or not detected
|
0413U | Oncology (hematolymphoid neoplasm), optical genome mapping for copy number alterations, aneuploidy, and balanced/complex structural rearrangements, DNA from blood or bone marrow, report of clinically significant alterations |
0448U | Oncology (lung
and colon cancer), DNA, qualitative, next-generation sequencing detection of single-nucleotide variants and deletions in EGFR and KRAS genes, formalin-fixed paraffin-embedded (FFPE) solid tumor samples, reported as presence or absence of targeted mutation(s), with recommended therapeutic options (Deleted 12/31/2024)
|
0469U | Rare diseases (constitutional/heritable disorders), whole genome sequence analysis for chromosomal abnormalities, copy number variants, duplications/deletions, inversions, unbalanced translocations, regions of homozygosity (ROH), inheritance pattern that indicate uniparental disomy (UPD), and aneuploidy, fetal sample (amniotic fluid, chorionic villus sample, or products of conception), identification and categorization of genetic variants, diagnostic report of fetal results based on phenotype with maternal sample and paternal sample, if performed, as comparators and/or maternal cell contamination |
0485U | Oncology (solid tumor), cell-free DNA and RNA by next-generation sequencing, interpretative report for germline mutations, clonal hematopoiesis of indeterminate potential, and tumor-derived single nucleotide variants, small insertions/deletions, copy number alterations, fusions, microsatellite instability and tumor mutational burden
|
0486U | Oncology (pan-solid tumor), next-generation sequencing analysis of tumor methylation markers present in cell-free circulating tumor DNA, algorithm reported as quantitative measurement of methylation as a correlate of tumor fraction |
0487U | Oncology (solid tumor), cell-free circulating DNA, targeted genomic sequence analysis panel of 84 genes, interrogation for sequence variants, aneuploidy corrected gene copy number amplifications and losses, gene rearrangements, and microsatellite instability |
0493U | Transplantation medicine, quantification of donor-derived cell-free DNA (cfDNA) using next generation sequencing, plasma, reported as percentage of donor derived cell-free DNA |
0494U | Red blood cell antigen (fetal RhD gene analysis), next-generation sequencing of circulating cell-free DNA (cfDNA) of blood in pregnant individuals known to be RhD negative, reported as positive or negative |
0496U | Oncology (colorectal), cell-free DNA, 8 genes for mutations, 7 genes for methylation by real-time RT-PCR, and 4 proteins by enzyme-linked immunosorbent assay, blood, reported positive or negative for colorectal cancer or advanced adenoma risk |
0499U | Oncology (colorectal and lung), DNA from formalin-fixed paraffin embedded (FFPE) tissue, next generation sequencing of 8 genes (NRAS, EGFR, CTNNB1, PIK3CA, APC, BRAF, KRAS, and TP53), mutation detection |
0506U | Gastroenterology (Barrett’s esophagus), esophageal cells, DNA methylation analysis by next-generation sequencing of at least 89 differentially methylated genomic regions, algorithm reported as likelihood for Barrett’s esophagus |
0516U | Drug metabolism, whole blood, pharmacogenomic genotyping of 40 genes and CYP2D6 copy number variant analysis, reported as metabolizer status |
0533U | Drug metabolism (adverse drug reactions and drug response), genotyping of 16 genes (ie, ABCG2, CYP2B6, CYP2C9, CYP2C19, CYP2C, CYP2D6, CYP3A5, CYP4F2, DPYD, G6PD, GGCX, NUDT15, SLCO1B1, TPMT, UGT1A1, VKORC1), reported as metabolizer status and transporter function (New 04/01/2025)
|
0537U | Oncology (colorectal cancer), analysis of cell-free DNA for epigenomic patterns, next-generation sequencing, >2500 differentially methylated regions (DMRs), plasma, algorithm reported as positive or negative (New 04/01/2025) |
0559U | Oncology (breast), quantitative enzyme-linked immunosorbent assay (ELISA) for secreted breast cancer protein marker (BF9 antigen), serum, result reported as indicative of response/no response to therapy or disease progression/regression
|
0566U | Oncology (lung), qPCR-based analysis of 13 differentially methylated regions (CCDC181, HOXA7, LRRC8A, MARCHF11, MIR129-2, NCOR2, PANTR1, PRKCB, SLC9A3, TBR1_2, TRAP1, VWC2, ZNF781), pleural fluid, algorithm reported as a qualitative result |
0582U | Rare diseases (constitutional disease/hereditary disorders), rapid whole genome DNA sequencing for single-nucleotide variants, insertions/deletions, copy number variations, blood, saliva, tissue sample, variants reported |
0583U | Rare diseases (constitutional disease/hereditary disorders), rapid whole genome comparator DNA sequencing for single-nucleotide variants, insertions/deletions, copy number variations, blood, saliva, tissue sample, variants reported with proband results (List separately in addition to code for primary procedure) |
81105 | Human Platelet Antigen 1 genotyping (HPA-1), ITGB3 (integrin, beta 3 [platelet glycoprotein IIIa], antigen CD61 [GPIIIa]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant, HPA-1a/b (L33P) |
81106 | Human Platelet Antigen 2 genotyping (HPA-2), GP1BA (glycoprotein Ib [platelet], alpha polypeptide [GPIba]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant, HPA-2a/b (T145M) |
81107 | Human Platelet Antigen 3 genotyping (HPA-3), ITGA2B (integrin, alpha 2b [platelet glycoprotein IIb of IIb/IIIa complex], antigen CD41 [GPIIb]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant, HPA-3a/b (I843S) |
81108 | Human Platelet Antigen 4 genotyping (HPA-4), ITGB3 (integrin, beta 3 [platelet glycoprotein IIIa], antigen CD61 [GPIIIa]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant, HPA-4a/b (R143Q) |
81109 | Human Platelet Antigen 5 genotyping (HPA-5), ITGA2 (integrin, alpha 2 [CD49B, alpha 2 subunit of VLA-2 receptor] [GPIa]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant (eg, HPA-5a/b (K505E)) |
81110 | Human Platelet Antigen 6 genotyping (HPA-6w), ITGB3 (integrin, beta 3 [platelet glycoprotein IIIa, antigen CD61] [GPIIIa]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant, HPA-6a/b (R489Q) |
81111 | Human Platelet Antigen 9 genotyping (HPA-9w), ITGA2B (integrin, alpha 2b [platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41] [GPIIb]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant, HPA-9a/b (V837M) |
81112 | Human Platelet Antigen 15 genotyping (HPA-15), CD109 (CD109 molecule) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura) gene analysis, common variant, HPA-15a/b (S682Y) |
81168 | CCND1/IGH (t(11;14)) (eg, mantle cell lymphoma) translocation analysis, major breakpoint, qualitative and quantitative, if performed |
81191 | NTRK1 (neurotrophic receptor tyrosine kinase 1) (eg, solid tumors) translocation analysis |
81192 | NTRK2 (neurotrophic receptor tyrosine kinase 2) (eg, solid tumors) translocation analysis |
81193 | NTRK3 (neurotrophic receptor tyrosine kinase 3) (eg, solid tumors) translocation analysis |
81194 | NTRK (neurotrophic-tropomyosin receptor tyrosine kinase 1, 2, and 3) (eg, solid tumors) translocation analysis |
81225 | CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *8, *17) |
81226 | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN) |
81227 | CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *5, *6) |
81230 | CYP3A4 (cytochrome P450 family 3 subfamily A member 4) (eg, drug metabolism) gene analysis, common variant(s) (eg, *2, *22) |
81231 | CYP3A5 (cytochrome P450 family 3 subfamily A member 5) (eg, drug metabolism) gene analysis, common variants (eg, *2, *3, *4, *5 *6, *7) |
81232 | DPYD (dihydropyrimidine dehydrogenase) (eg, 5-fluorouracil/5-FU and capecitabine drug metabolism) gene analysis, common variant(s) (eg, *2A, *4, *5, *6) |
81233 | BTK (Bruton's tyrosine kinase) (eg, chronic lymphocytic leukemia) gene analysis, common variants (eg, C481S, C481R, C481F) |
81236 | EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, myelodysplastic syndrome, myeloproliferative neoplasms) gene analysis, full gene sequence |
81237 | EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, diffuse large B-cell lymphoma) gene analysis, common variant(s) (eg, codon 646) |
81240 | F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant |
81241 | F5 (coagulation Factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant |
81247 | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice) gene analysis; common variant(s) (eg, A, A-) |
81248 | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice) gene analysis; known familial variant(s) |
81249 | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice) gene analysis; full gene sequence |
81278 | IGH@/BCL2 (t(14;18)) (eg, follicular lymphoma) translocation analysis, major breakpoint region (MBR) and minor cluster region (mcr) breakpoints, qualitative or quantitative |
81283 | IFNL3 (interferon, lambda 3) (eg, drug response) gene analysis, rs12979860 variant |
81287 | MGMT (O-6-methylguanine-DNA methyltransferase) (eg, glioblastoma multiforme), promoter methylation analysis |
81291 | MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C) |
81305 | MYD88 (myeloid differentiation primary response 88) (eg, Waldenstrom's macroglobulinemia, lymphoplasmacytic leukemia) gene analysis, p.Leu265Pro (L265P) variant |
81306 | NUDT15 (nudix hydrolase 15) (eg, drug metabolism) gene analysis, common variant(s) (eg, *2, *3, *4, *5, *6) |
81313 | PCA3/KLK3 (prostate cancer antigen 3 [non-protein coding]/kallikrein-related peptidase 3 [prostate specific antigen]) ratio (eg, prostate cancer) |
81320 | PLCG2 (phospholipase C gamma 2) (eg, chronic lymphocytic leukemia) gene analysis, common variants (eg, R665W, S707F, L845F) |
81327 | SEPT9 (Septin9) (eg, colorectal cancer) promoter methylation analysis |
81328 | SLCO1B1 (solute carrier organic anion transporter family, member 1B1) (eg, adverse drug reaction) gene analysis, common variant(s) (eg, *5) |
81333 | TGFBI (transforming growth factor beta-induced) (eg, corneal dystrophy) gene analysis, common variants (eg, R124H, R124C, R124L, R555W, R555Q) |
81334 | RUNX1 (runt related transcription factor 1) (eg, acute myeloid leukemia, familial platelet disorder with associated myeloid malignancy) gene analysis, targeted sequence analysis (eg, exons 3-8) |
81346 | TYMS (thymidylate synthetase) (eg, 5-fluorouracil/5-FU drug metabolism) gene analysis, common variant(s) (eg, tandem repeat variant) |
81355 | VKORC1 (vitamin K epoxide reductase complex, subunit 1) (eg, warfarin metabolism), gene analysis, common variants (eg, 1639G>A, c. 173+1000C>T) |
81441 | Inherited bone marrow failure syndromes (IBMFS) (eg, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, GATA2 deficiency syndrome, congenital amegakaryocytic thrombocytopenia) sequence analysis panel, must include sequencing of at least 30 genes, including BRCA2, BRIP1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, GATA1, GATA2, MPL, NHP2, NOP10, PALB2, RAD51C, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SBDS, TERT, and TINF2 |
81524 | Oncology (central nervous system tumor), DNA methylation analysis of at least 10,000 methylation sites, utilizing DNA extracted from formalin-fixed tumor tissue, algorithm(s) reported as probability of matching a reference tumor family and class, and MGMT (O-6?methylguanine-DNA methyltransferase) promoter methylation status, if performed (New 01/01/2026) |
81542 | Oncology (prostate), mRNA, microarray gene expression profiling of 22 content genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as metastasis risk score |
81554 | Pulmonary disease (idiopathic pulmonary fibrosis [IPF]), mRNA, gene expression analysis of 190 genes, utilizing transbronchial biopsies, diagnostic algorithm reported as categorical result (eg, positive or negative for high probability of usual interstitial pneumonia [UIP]) |
HCPCS | |
G0327 | Colorectal cancer screening; blood-based biomarker |
S3852 | DNA analysis for APOE epsilon 4 allele for susceptibility to Alzheimer's disease |
ICD-10 Procedure | |
ICD-10 Diagnosis | |
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