(2024) List With CPT Codes For Genetic Testing

The CPT manual describes a long list of CPT codes for genetic testing. We have divided it into different categories, including genetic testing for; Psychiatry Genomic Analysis, Oncology Genomic Analysis Panels, Red Cell Antigen Genotyping, Rare Diseases and Constitutional/Heritable Disorders Genomic Analysis, Reproductive Medicine Genomic Analysis, and Other Genetic Testing.

1. CPT Codes for Psychiatry Genomic Analysis Panels

Psychiatry Genomic Analysis Panels are used to analyze the genetic makeup of patients suffering from psychiatric conditions such as depression and anxiety. These panels include variant analysis of specific genes associated with these conditions.

1.1 CPT Code 0173U

Lay-term: CPT 0173U is used when a provider performs a genomic analysis panel for psychiatric conditions like depression and anxiety, which includes variant analysis of 14 genes.

Long description: Psychiatry (ie, depression, anxiety), genomic analysis panel, includes variant analysis of 14 genes.

Short description: Genetic testing for psychiatric conditions with 14 gene variant analysis.

1.2 CPT Code 0175U

Lay-term: CPT 0175U is used when a provider performs a genomic analysis panel for psychiatric conditions, which includes variant analysis of 15 genes.

Long description: Psychiatry (eg, depression, anxiety), genomic analysis panel, variant analysis of 15 genes.

Short description: Genetic testing for psychiatric conditions with 15 gene variant analysis.

2. CPT Codes for Oncology Genomic Analysis Panels

Oncology Genomic Analysis Panels are used to analyze the genetic makeup of patients suffering from various types of cancer. These panels include targeted sequence analysis of specific genes associated with these conditions.

2.1 CPT Code 0179U

Lay-term: CPT 0179U is used when a provider performs a targeted sequence analysis of 23 genes for patients with non-small cell lung cancer.

Long description: Oncology (non-small cell lung cancer), cell-free DNA, targeted sequence analysis of 23 genes (single nucleotide variation, insertion/deletion, copy number variation).

Short description: Genetic testing for non-small cell lung cancer with 23 gene targeted sequence analysis.

2.2 CPT Code 0403U

Lay-term: CPT 0403U is used when a provider performs a gene expression profiling of 18 genes for patients with prostate cancer.

Long description: Oncology (prostate), mRNA, gene expression profiling by real-time RT-PCR of 15 genes (12 content and 3 housekeeping), utilizing formalin-fixed paraffin embedded tissue, algorithm reported as a risk score.

Short description: Genetic testing for prostate cancer with 18 gene expression profiling.

2.3 CPT Code 81191

Lay-term: CPT 81191 is used when a provider performs a translocation analysis of the NTRK1 gene in patients with solid tumors.

Long description: NTRK1 (neurotrophic receptor tyrosine kinase 1) (eg, solid tumors) translocation analysis.

Short description: Genetic testing for solid tumors with NTRK1 translocation analysis.

2.4 CPT Code 81192

Lay-term: CPT 81192 is used when a provider performs a translocation analysis of the NTRK2 gene in patients with solid tumors.

Long description: NTRK2 (neurotrophic receptor tyrosine kinase 2) (eg, solid tumors) translocation analysis.

Short description: Genetic testing for solid tumors with NTRK2 translocation analysis.

2.5 CPT Code 81193

Lay-term: CPT 81193 is used when a provider performs a translocation analysis of the NTRK3 gene in patients with solid tumors.

Long description: NTRK3 (neurotrophic receptor tyrosine kinase 3) (eg, solid tumors) translocation analysis.

Short description: Genetic testing for solid tumors with NTRK3 translocation analysis.

2.6 CPT Code 81194

Lay-term: CPT 81194 is used when a provider performs a translocation analysis of the NTRK1, 2, and 3 genes in patients with solid tumors.

Long description: NTRK (neurotrophic receptor tyrosine kinase 1, 2, and 3) (eg, solid tumors) translocation analysis.

Short description: Genetic testing for solid tumors with NTRK1, 2, and 3 translocation analysis.

2.7 CPT Code 81338

Lay-term: CPT 81338 is used when a provider performs a gene analysis of common variants of the MPL gene in patients with myeloproliferative disorder.

Long description: MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis common variants (eg, 505A>G, 515G>C).

Short description: Genetic testing for myeloproliferative disorder with MPL gene common variants analysis.

2.8 CPT Code 81339

Lay-term: CPT 81339 is used when a provider performs a sequence analysis of the MPL gene in patients with myeloproliferative disorder.

Long description: MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis sequence analysis, exon 10.

Short description: Genetic testing for myeloproliferative disorder with MPL gene sequence analysis.

2.9 CPT Code 81443

Lay-term: CPT 81443 is used when a provider performs genetic testing for severe inherited conditions.

Long description: Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, mucolipidosis IV, Niemann-Pick disease type A, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 10 genes, including CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, NPC1, SMPD1, and Tay-Sachs disease.

Short description: Genetic testing for severe inherited conditions with genomic sequence analysis of at least 10 genes.

2.10 CPT Code 81552

Lay-term: CPT 81552 is used when a provider performs a gene expression profiling of 15 genes for patients with uveal melanoma.

Long description: Oncology (uveal melanoma), mRNA, gene expression profiling by real-time RT-PCR of 15 genes (12 content and 3 housekeeping), utilizing formalin-fixed paraffin embedded tissue, algorithm reported as a risk score.

Short description: Genetic testing for uveal melanoma with 15 gene expression profiling.

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3. CPT Codes for Red Cell Antigen Genotyping

Red Cell Antigen Genotyping is a genetic testing procedure that identifies specific antigens on the surface of red blood cells. These antigens can determine blood compatibility for transfusions and organ transplants.

3.1 CPT Code 0182U

Lay-term: CPT 0182U is used when a provider performs a genetic testing procedure to identify the Cromer blood group antigen on red blood cells.

Long description: Red cell antigen (Cromer blood group) genotyping (CROM), gene analysis, CD55 (CD55 molecule Cromer blood group) exons 1-10.

Short description: Genetic testing for Cromer blood group antigen identification.

3.2 CPT Code 0183U

Lay-term: CPT 0183U is used when a provider performs a genetic testing procedure to identify the Diego blood group antigen on red blood cells.

Long description: Red cell antigen (Diego blood group) genotyping (DI), gene analysis, SLC4A1 (solute carrier family 4 member 1 Diego blood group) exons 1-20.

Short description: Genetic testing for Diego blood group antigen identification.

3.3 CPT Code 0184U

Lay-term: CPT 0184U is used when a provider performs a genetic testing procedure to identify the Dombrock blood group antigen on red blood cells.

Long description: Red cell antigen (Dombrock blood group) genotyping (DO), gene analysis, ART4 (ADP-ribosyltransferase 4 Dombrock blood group) exons 1-10.

Short description: Genetic testing for Dombrock blood group antigen identification.

3.4 CPT Code 0185U

Lay-term: CPT 0185U is used when a provider performs a genetic testing procedure to identify the H blood group antigen on red blood cells.

Long description: Red cell antigen (H blood group) genotyping (FUT1), gene analysis, FUT1 (fucosyltransferase 1 H blood group) exon 4.

Short description: Genetic testing for H blood group antigen identification.

3.5 CPT Code 0186U

Lay-term: CPT 0186U is used when a provider performs a genetic testing procedure to identify the H blood group antigen on red blood cells.

Long description: Red cell antigen (H blood group) genotyping (FUT2), gene analysis, FUT2 (fucosyltransferase 2) exon 2.

Short description: Genetic testing for H blood group antigen identification.

3.6 CPT Code 0187U

Lay-term: CPT 0187U is used when a provider performs a genetic testing procedure to identify the Duffy blood group antigen on red blood cells.

Long description: Red cell antigen (Duffy blood group) genotyping (FY), gene analysis, ACKR1 (atypical chemokine receptor 1 Duffy blood group) exons 1-10.

Short description: Genetic testing for Duffy blood group antigen identification.

3.7 CPT Code 0188U

Lay-term: CPT 0188U is used when a provider performs a genetic testing procedure to identify the Gerbich blood group antigen on red blood cells.

Long description: Red cell antigen (Gerbich blood group) genotyping (GE), gene analysis, GYPC (glycophorin C Gerbich blood group) exons 1-10.

Short description: Genetic testing for Gerbich blood group antigen identification.

3.8 CPT Code 0189U

Lay-term: CPT 0189U is used when a provider performs a genetic testing procedure to identify the MNS blood group antigen on red blood cells.

Long description: Red cell antigen (MNS blood group) genotyping (GYPA), gene analysis, GYPA (glycophorin A MNS blood group) introns 1, 5, and 7.

Short description: Genetic testing for MNS blood group antigen identification.

3.9 CPT Code 0190U

Lay-term: CPT 0190U is used when a provider performs a genetic testing procedure to identify the MNS blood group antigen on red blood cells.

Long description: Red cell antigen (MNS blood group) genotyping (GYPB), gene analysis, GYPB (glycophorin B MNS blood group) introns 1, 5, and 7.

Short description: Genetic testing for MNS blood group antigen identification.

3.10 CPT Code 0191U

Lay-term: CPT 0191U is used when a provider performs a genetic testing procedure to identify the Indian blood group antigen on red blood cells.

Long description: Red cell antigen (Indian blood group) genotyping (IN), gene analysis, CD44 (CD44 molecule Indian blood group) exons 2, 3, and 10.

Short description: Genetic testing for Indian blood group antigen identification.

3.11 CPT Code 0192U

Lay-term: CPT 0192U is used when a provider performs a genetic testing procedure to identify the Kidd blood group antigen on red blood cells.

Long description: Red cell antigen (Kidd blood group) genotyping (JK), gene analysis, SLC14A1 (solute carrier family 14 member 1 Kidd blood group) exons 1-10.

Short description: Genetic testing for Kidd blood group antigen identification.

3.12 CPT Code 0193U

Lay-term: CPT 0193U is used when a provider performs a genetic testing procedure to identify the JR blood group antigen on red blood cells.

Long description: Red cell antigen (JR blood group) genotyping (JR), gene analysis, ABCG2 (ATP binding cassette subfamily G member 2 Junior blood group) exons 1-10.

Short description: Genetic testing for JR blood group antigen identification.

3.13 CPT Code 0194U

Lay-term: CPT 0194U is used when a provider performs a genetic testing procedure to identify the Kell blood group antigen on red blood cells.

Long description: Red cell antigen (Kell blood group) genotyping (KEL), gene analysis, KEL (Kell metallo-endopeptidase Kell blood group) exons 1-10.

Short description: Genetic testing for Kell blood group antigen identification.

3.14 CPT Code 0195U

Lay-term: CPT 0195U is used when a provider performs a genetic testing procedure to identify the KLF1 gene.

Long description: KLF1 (Kruppel-like factor 1), targeted sequencing (ie, exon 13).

Short description: Genetic testing for KLF1 gene identification.

3.15 CPT Code 0196U

Lay-term: CPT 0196U is used when a provider performs a genetic testing procedure to identify the Lutheran blood group antigen on red blood cells.

Long description: Red cell antigen (Lutheran blood group) genotyping (LU), gene analysis, BCAM (basal cell adhesion molecule Lutheran blood group) exons 1-10.

Short description: Genetic testing for Lutheran blood group antigen identification.

3.16 CPT Code 0197U

Lay-term: CPT 0197U is used when a provider performs a genetic testing procedure to identify the Landsteiner-Wiener blood group antigen on red blood cells.

Long description: Red cell antigen (Landsteiner-Wiener blood group) genotyping (LW), gene analysis, ICAM4 (intercellular adhesion molecule 4 Landsteiner-Wiener blood group) exons 1-10.

Short description: Genetic testing for Landsteiner-Wiener blood group antigen identification.

3.17 CPT Code 0198U

Lay-term: CPT 0198U is used when a provider performs a genetic testing procedure to identify the RH blood group antigen on red blood cells.

Long description: Red cell antigen (RH blood group) genotyping (RHD and RHCE), gene analysis Sanger/chain termination/conventional sequencing or next generation sequencing, sequence analysis, each gene.

Short description: Genetic testing for RH blood group antigen identification.

3.18 CPT Code 0199U

Lay-term: CPT 0199U is used when a provider performs a genetic testing procedure to identify the Scianna blood group antigen on red blood cells.

Long description: Red cell antigen (Scianna blood group) genotyping (SC), gene analysis, ERMAP (erythroblast membrane associated protein Scianna blood group) exons 1-10.

Short description: Genetic testing for Scianna blood group antigen identification.

3.19 CPT Code 0200U

Lay-term: CPT 0200U is used when a provider performs a genetic testing procedure to identify the Kx blood group antigen on red blood cells.

Long description: Red cell antigen (Kx blood group) genotyping (XK), gene analysis, XK (X-linked Kx blood group) exons 1-3.

Short description: Genetic testing for Kx blood group antigen identification.

3.20 CPT Code 0201U

Lay-term: CPT 0201U is used when a provider performs a genetic testing procedure to identify the Yt blood group antigen on red blood cells.

Long description: Red cell antigen (Yt blood group) genotyping (YT), gene analysis, ACHE (acetylcholinesterase Cartwright blood group) exons 1-10.

Short description: Genetic testing for Yt blood group antigen identification.

4. CPT Codes for Rare Diseases and Constitutional/Heritable Disorders Genomic Analysis

Genomic analysis for rare diseases and constitutional/heritable disorders involves the use of genetic testing to identify specific genetic mutations that may cause or contribute to these conditions. This can help in diagnosing the condition, determining the risk of developing the condition, or identifying carriers of the genetic mutation.

4.1 CPT Code 0212U

Lay-term: CPT 0212U is used when a provider performs a whole genome and mitochondrial DNA sequence analysis for the diagnosis or risk assessment of rare diseases and constitutional/heritable disorders.

Long description: Rare diseases (constitutional/heritable disorders), whole genome and mitochondrial DNA sequence analysis, including small sequence changes, copy number variants (duplications and deletions), and structural variants (eg, inversions, translocations), blood or saliva, report of specific findings.

Short description: Whole genome and mitochondrial DNA sequence analysis for genetic testing of rare diseases and constitutional/heritable disorders.

4.2 CPT Code 0214U

Lay-term: CPT 0214U is used when a provider performs a whole exome and mitochondrial DNA sequence analysis for the diagnosis or risk assessment of rare diseases and constitutional/heritable disorders.

Long description: Rare diseases (constitutional/heritable disorders), whole exome and mitochondrial DNA sequence analysis, including small sequence changes, copy number variants (duplications and deletions), and structural variants (eg, inversions, translocations), blood or saliva, report of specific findings.

Short description: Whole exome and mitochondrial DNA sequence analysis for genetic testing of rare diseases and constitutional/heritable disorders.

4.3 CPT Code 81419

Lay-term: CPT 81419 is used when a provider performs a genomic sequence analysis panel for epilepsy, which must include analyses for specific genes.

Long description: Epilepsy genomic sequence analysis panel, must include analyses for ALDH7A1, CACNA1A, CDKL5, CHD2, GABRG2, GRIN2A, KCNQ2, KCNQ3, SCN1A, SCN1B, SCN2A, SCN8A, and STXBP1.

Short description: Genomic sequence analysis panel for genetic testing of epilepsy.

4.4 CPT Code 81420

Lay-term: CPT 81420 is used when a provider performs a fetal chromosomal aneuploidy genomic sequence analysis panel, which is a type of genetic testing that can detect common chromosomal conditions in a fetus, such as Down syndrome (trisomy 21) and Turner syndrome (monosomy X).

Long description: Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosome 21.

Short description: Fetal chromosomal aneuploidy genomic sequence analysis panel for genetic testing.

4.5 CPT Code 81422

Lay-term: CPT 81422 is used when a provider performs a fetal chromosomal microdeletion(s) genomic sequence analysis, which is a type of genetic testing that can detect small deletions of chromosomes in a fetus that may lead to certain genetic conditions, such as DiGeorge syndrome or Cri-du-chat syndrome.

Long description: Fetal chromosomal microdeletion(s) genomic sequence analysis (eg, DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood.

Short description: Fetal chromosomal microdeletion(s) genomic sequence analysis for genetic testing.

4.6 CPT Code 81448

Lay-term: CPT 81448 is used when a provider performs a genomic sequence analysis panel for hereditary peripheral neuropathies, which are genetic conditions that affect the peripheral nerves.

Long description: Hereditary peripheral neuropathies (eg, Charcot-Marie-Tooth, spastic paraplegia), genomic sequence analysis panel, must include analyses for at least 5 genes, including PMP22, GJB1 (connexin 32), MPZ (P0), MFN2, and PRX.

Short description: Genomic sequence analysis panel for genetic testing of hereditary peripheral neuropathies.

5. CPT Codes for Reproductive Medicine Genomic Analysis

Reproductive Medicine Genomic Analysis involves genetic testing procedures that are used to identify genetic abnormalities that could affect fertility, pregnancy, and the health of offspring. These tests can be crucial in providing valuable information for family planning and prenatal care.

5.1 CPT Code 0254U

Lay-term: CPT 0254U is used when a provider performs a genetic testing procedure to analyze 24 chromosomes using embryonic DNA genomic sequencing. This is often done in the context of preimplantation genetic assessment.

Long description: Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using embryonic DNA genomic sequencing.

Short description: Genetic testing for preimplantation genetic assessment.

5.2 CPT Code 0396U

Lay-term: CPT 0396U is used when a provider performs a genetic testing procedure to evaluate 300000 DNA single-nucleotide polymorphisms (SNPs) by microarray. This is often done in the context of obstetrics and pre-implantation genetic testing.

Long description: Obstetrics (pre-implantation genetic testing), evaluation of 300000 DNA single-nucleotide polymorphisms (SNPs) by microarray.

Short description: Genetic testing for pre-implantation genetic testing in obstetrics.

5.3 CPT Code 0400U

Lay-term: CPT 0400U is used when a provider performs a genetic testing procedure for expanded carrier screening. This involves the analysis of 145 genes by next-generation sequencing, fragment analysis, and multiplex ligation.

Long description: Obstetrics (expanded carrier screening), 145 genes by next-generation sequencing, fragment analysis and multiplex ligation.

Short description: Genetic testing for expanded carrier screening in obstetrics.

6. CPT Codes for Other Genetic Testing

The CPT codes for other genetic testing procedures are described below. These codes can not be grouped into specific categories.

6.1 CPT Code 0237U

Lay-term: CPT 0237U is used when a provider performs a genetic testing procedure to identify cardiac ion channelopathies. These are conditions that can cause abnormal heart rhythms and are often associated with conditions like Brugada syndrome, long QT syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia.

Long description: Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia), genomic sequence analysis panel, must include analyses for 10 genes.

Short description: Genetic testing for cardiac ion channelopathies.

6.2 CPT Code 0401U

Lay-term: CPT 0401U is used when a provider performs a genetic testing procedure to identify genetic variants associated with coronary heart disease. This involves targeted variant genotyping of 9 genes.

Long description: Cardiology (coronary heart disease CHD), 9 genes (12 variants), targeted variant genotyping, blood, saliva, or buccal swab.

Short description: Genetic testing for coronary heart disease.

6.3 CPT Code 81402

Lay-term: CPT 81402 is used when a provider performs a molecular pathology procedure. This involves the analysis of more than 10 single nucleotide polymorphisms (SNPs), 2-10 methylated variants, or 2-10 somatic variants.

Long description: Molecular pathology procedure, Level 3 (eg, >10 SNPs, 2-10 methylated variants, or 2-10 somatic variants typically using nonsequencing or targeted sequencing methodologies).

Short description: Genetic testing for molecular pathology.