AIM Specialty Health Genetic Testing Clinical Appropriateness Guidelines CPT Code List update

CPT code

Description

81175¹

ASXL1 (additional sex combs like 1, transcriptional re.g.ulator) (e.g., myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; full gene sequence

81176¹

ASXL1 (additional sex combs like 1, transcriptional re.g.ulator) (e.g., myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; targeted sequence analysis (e.g., exon 12)

81206¹

BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative

81207¹

BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative

81208¹

BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative

81218¹

CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (e.g., acute myeloid leukemia), gene analysis, full gene sequence

81233¹

BTK (Bruton's tyrosine kinase) (e.g., chronic lymphocytic leukemia) gene analysis, common variants (e.g., C481S, C481R, C481F)

81236¹

EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (e.g., myelodysplastic syndrome, myeloproliferative neoplasms) gene analysis, full gene sequence

81237¹

EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (e.g., diffuse large B-cell lymphoma) gene analysis, common variant(s) (e.g., codon 646)

81273¹

KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (e.g., mastocytosis), gene analysis, D816 variant(s)

81310¹

NPM1 (nucleophosmin) (e.g., acute myeloid leukemia) gene analysis, exon 12 variants

81315¹

PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (e.g., promyelocytic leukemia) translocation analysis; common breakpoints (e.g., intron 3 and intron 6), qualitative or quantitative

81316¹

PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (e.g., promyelocytic leukemia) translocation analysis; single breakpoint (e.g., intron 3, intron 6 or exon 6), qualitative or quantitative

81320¹

PLCG2 (phospholipase C gamma 2) (e.g., chronic lymphocytic leukemia) gene analysis, common variants (e.g., R665W, S707F, L845F)

81334¹

RUNX1 (runt related transcription factor 1) (e.g., acute myeloid leukemia, familial platelet disorder with associated myeloid malignancy), gene analysis, targeted sequence analysis (e.g., exons 3-8)

81347¹

SF3B1 (splicing factor [3b] subunit B1) (e.g., myelodysplastic syndrome/acute myeloid leukemia) gene analysis, common variants (e.g., A672T, E622D, L833F, R625C, R625L)

81348¹

SRSF2 (serine and arginine-rich splicing factor 2) (e.g., myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (e.g., P95H, P95L)

81357¹

U2AF1 (U2 small nuclear RNA auxiliary factor 1) (e.g., myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (e.g., S34F, S34Y, Q157R, Q157P)

81360¹

ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine-rich 2) (e.g., myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variant(s) (e.g., E65fs, E122fs, R448fs)

0016U¹

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

0040U¹

BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis, major breakpoint, quantitative

0049U¹

NPM1 (nucleophosmin) (e.g., acute myeloid leukemia) gene analysis, quantitative

0101U²

Hereditary colon cancer disorders (e.g., Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatous polyposis), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (15 genes [sequencing and deletion/duplication], EPCAM and GREM1 [deletion/duplication only])

0102U²

Hereditary breast cancer-related disorders (e.g., hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (17 genes [sequencing and deletion/duplication])

0103U²

Hereditary ovarian cancer (e.g., hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (24 genes [sequencing and deletion/duplication], EPCAM [deletion/duplication only])

0306U³

Gastric emptying, serial collection of 7 timed breath specimens, non-radioisotope carbon-13 (13C) spirulina substrate, analysis of each specimen by gas isotope ratio mass spectrometry, reported as rate of 13CO2 excretion

0307U³

Clostridium difficile toxin(s) antigen detection by immunoassay technique, stool, qualitative, multiple-step method

0314U⁴

Oncology (cutaneous melanoma), mRNA gene expression profiling by RT-PCR of 35 genes (32 content and 3 housekeeping), utilizing formalin-fixed paraffin-embedded (FFPE) tissue, algorithm reported as a cate.g.orical result (ie, benign, intermediate, malignant)

0315U⁴

Oncology (cutaneous squamous cell carcinoma), mRNA gene expression profiling by RT-PCR of 40 genes (34 content and 6 housekeeping), utilizing formalin-fixed paraffin-embedded (FFPE) tissue, algorithm reported as a cate.g.orical risk result (ie, Class 1, Class 2A, Class 2B)

0318U⁵

Pediatrics (congenital epigenetic disorders), whole genome methylation analysis by microarray for 50 or more genes, blood

0323U⁶

Infectious agent detection by nucleic acid (DNA and RNA), central nervous system pathogen, metagenomic next-generation sequencing, cerebrospinal fluid (CSF), identification of pathogenic bacteria, viruses, parasites, or fungi

0326U³

Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free circulating DNA analysis of 83 or more genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational burden

0329U²

Oncology (neoplasia), exome and transcriptome sequence analysis for sequence variants, gene copy number amplifications and deletions, gene rearrangements, microsatellite instability and tumor mutational burden utilizing DNA and RNA from tumor with DNA from normal blood or saliva for subtraction, report of clinically significant mutation(s) with therapy associations

0331U²

Oncology (hematolymphoid neoplasia), optical genome mapping for copy number alterations and gene rearrangements utilizing DNA from blood or bone marrow, report of clinically significant alterations

S3852⁷

DNA analysis for APOE epsilon 4 allele for susceptibility to Alzheimer's disease