POLICY.........PG0041 EFFECTIVE......01/01/12 LAST REVIEW... 04/22/16 MEDICAL POLICY Genetic Testing GUIDELINES This policy does not certify benefits or authorization of benefits, which is designated by each individual policyholder contract. Paramount applies coding edits to all medical claims through coding logic software to evaluate the accuracy and adherence to accepted national standards. This guideline is solely for explaining correct procedure reporting and does not imply coverage and reimbursement. DESCRIPTION A genetic test is the analysis of human DNA, RNA, chromosomes, proteins, or certain metabolites in order to detect alterations related to a heritable or acquired disorder. This can be accomplished by directly examining the DNA or RNA that makes up a gene (direct testing), looking at markers co-inherited with a disease-causing gene (linkage testing), assaying certain metabolites (biochemical testing), or examining the chromosomes (cytogenetic testing). Clinical genetic tests are those in which specimens are examined and results reported to the provider or patient for the purpose of diagnosis, prevention or treatment in the care of individual patients. Genetic testing is performed for a variety of intended uses: Diagnostic testing (to diagnose disease) Predictive testing (generally performed to gather genetic data that can assist in clinical management, including therapeutic decision for an individual. Pre-symptomatic genetic testing (to predict future disease) Carrier testing (to identify carriers of genetic mutations) Prenatal testing (offered during pregnancy to identify fetuses that have certain diseases) Pre-implantation genetic testing (done in conjunction with invitro fertilization to determine whether embryos for implantation carry genes that could cause disease) Newborn screening (to test newborns shortly after birth to determine whether they have certain diseases known to cause problems with health and development) Pharmacogenetic testing (to determine the likelihood of an individual being responsive to a particular drug and/or to predict serious toxicity from a drug in order to optimize drug selection or drug dosage) Research genetic testing (used to help with research and development of gene-based therapy) Several hundred genetic tests are currently in use, and more are being developed. Although genetic testing can provide helpful information for diagnosing, treating, and preventing illness, there are limitations. For example, in a healthy patient, a positive result from a non-malignant genetic test does not always mean the patient will develop a disease. On the other hand, in some situation, a negative result does not guarantee the patient will not have a certain disorder. POLICY Some genetic testing requires prior authorization or may be non-covered. A provider must refer to the Paramount prior authorization list and specific medical policy in reference to specific tests for coverage determinations (this list may not be all-inclusive): PG0065 Colorectal Cancer Screening (81401, 81528) PG0067 Genetic Testing for Breast and Ovarian Cancers (81162, 81211, 81212, 81213, 81214, 81215, 81216, 81217, 81432, 81433, 81445, 81455) PG0125 DNA-Based Testing for Adolescent Idiopathic Scoliosis (AIS) (0004M) PG0280 Long QT Syndrome (LQTS) (81280, 81281, 81282, 81406) PG0287 Cell-Free DNA Tests For Fetal Aneuploidy (81420, 81507, 0009M) PG0296 Comparative Genomic Hybridization (CGH) (81228 & 81229) PG0298 Afirma Thyroid FNA Analysis (81545) PG0301 Genetic Expression Assays for Breast Cancer Prognosis (81519, 81479, 0008M) PG0302 Genetic Testing for Colorectal Cancer (81201-81203, 81292-81301, 81317-81319, 81403) PG0334 ThyroSeq (81545) PG0336 PTEN Gene Testing (81321-81323, 81432, 81435, 81436, 81445, 81455)
- 2 - PG0340 AlloMap Molecular-Expression Blood Test (81595) PG0355 Genetic Testing for Hereditary Thrombophilia (81240, 81241, 81291) PG0357 Gene Expression Profiling for Colorectal Cancer (81525) PG0360 Genetic Testing for FMR1 Mutations Including Fragile X Syndrome (81243, 81244) PG0362 Vectra DA (81490) PG0363 CORUS CAD (81493) PG0364 Cancer Type ID (81540) PG0368 GeneSight Assay for Refractory Depression (81479) Genetic testing codes that require prior authorization for : 81162, 81201, 81202, 81203, 81211-81217, 81225, 81226, 81227, 81228, 81229, 81235, 81242, 81243, 81244, 81251, 81280-81282, 81287, 81288, 81292-81304, 81317-81319, 81321-81323, 81332, 81400-81408, 81420, 81432, 81435, 81436, 81445, 81450, 81455, 81479, 81504, 81509, 81519, 81599 Genetic testing codes that do not require prior authorization for : 81170, 81206-81208, 81210, 81218-81223, 81245, 81246, 81250, 81255-81256, 81261-81268, 81270, 81272, 81273, 81275, 81276, 81310, 81311, 81313-81316, 81340-81342, 81350, 81355, 81370-81383, 81437, 81528, 81545, 81595 Genetic testing codes that are non-covered for : 81161, 81200, 81205, 81209, 81224, 81240, 81241, 81252, 81253, 81254, 81257, 81260, 81290, 81291, 81324-81326, 81330, 81331, 81410, 81411, 81412, 81415-81417, 81425-81427, 81430, 81431, 81433, 81434, 81438, 81440, 81442, 81460, 81465, 81470, 81471, 81490, 81493, 81500, 81503, 81506-81512, 81525, 81535-81538, 81540, 0008M Genetic testing codes that require prior authorization for : 81162, 81201, 81202, 81203, 81211-81217, 81225, 81226, 81227, 81228, 81229, 81235, 81280-81282, 81287, 81288, 81292-81301, 81317-81319, 81321-81323, 81332, 81400-81408, 81420, 81432, 81435, 81436, 81445, 81450, 81455, 81479, 81493, 81504, 81509, 81519, 81599, 0008M Genetic testing codes that do not require prior authorization for : 81170, 81206-81208, 81210, 81218-81223, 81245, 81246, 81250, 81255-81256, 81261-81268, 81270, 81272, 81273, 81275, 81276, 81310, 81311, 81313-81316, 81340-81342, 81350, 81355, 81370-81383, 81437, 81490, 81525, 81528, 81540, 81545, 81595 Genetic testing codes that are non-covered for : 81161, 81200, 81205, 81209, 81224, 81240, 81241, 81242, 81243, 81244, 81251, 81252, 81253, 81254, 81257, 81260, 81290, 81291, 81302-81304, 81324-81326, 81330, 81331, 81410, 81411, 81412, 81415-81417, 81425-81427, 81430, 81431, 81433, 81434, 81438, 81440, 81442, 81460, 81465, 81470, 81471, 81500, 81503, 81506-81512, 81535-81538 Genetic testing codes that require prior authorization for : 81162, 81200, 81201, 81202, 81203, 81205, 81209, 81211-81217, 81224, 81225, 81226, 81227, 81228, 81229, 81235, 81240, 81241, 81242, 81243, 81244, 81251, 81252, 81253, 81254, 81257, 81260, 81280-81282, 81287, 81288, 81290, 81291, 81292-81304, 81317-81319, 81321-81326, 81330-81332, 81400-81408, 81410, 81411, 81412, 81415-81417, 81420, 81425-81427, 81430-81436, 81438, 81440, 81442, 81445, 81450, 81455, 81460, 81465, 81470, 81471, 81479, 81509, 81519, 81599 Genetic testing codes that do not require prior authorization for : 81170, 81206-81208, 81210, 81218-81223, 81245, 81246, 81250, 81255-81256, 81261-81268, 81270, 81272, 81273, 81275, 81276, 81310, 81311, 81313-81316, 81340-81342, 81350, 81355, 81370-81383, 81437, 81528, 81545, 81595 Genetic testing codes that are non-covered for : 81161, 81490, 81493, 81500-81512, 81525, 81535-81538, 81540, 0008M All Product Lines
- 3 - Cytogenetic studies (88230-88299) do not require prior authorization for all product lines. Code 88271 has a limit of 25 units per 365 days. Proprietary MAA codes 0001M-0004M, 0006M, 0007M, 0009M, 0010M are non-covered for all product lines.,, Coverage and authorization for genetic testing is determined by review. The testing must have direct effect on the management and clinical care of the individual being tested, and must contain all of the following criteria: The genetic disorder is associated with a significant disability or has a lethal natural history The risk of the significant disability or lethality from the genetic disorder cannot be determined through other diagnostic testing A specific mutation, or set of mutations, has been proven valid in the scientific literature to be reliable, associated with the disease The results of the genetic test could impact the medical management of the individual being tested The genetic test will likely result in an anticipated improvement in net health outcomes for the individual being tested (i.e. the disease is treatable or preventable) When requesting prior authorization review, the patient s medical history/record and details of the lab facility providing the requested service must be provided. An approved request will only be given to a specific lab for a specific provider for a specific service. Genetic testing may be denied as experimental or not medically necessary based on the information submitted. The physician, lab or facility ordering the service will be financially responsible if prior authorization is not obtained. Members who choose to proceed with unauthorized genetic testing bear the responsibility for the cost. The provider should always secure a Waiver of Responsibility prior to providing the testing to assure member understanding of their financial responsibility. While most genetic testing requires prior authorization, the following services have been reviewed by The Plan s medical staff with the determination that they are not medically supported and therefore are non-covered (this list may not be all-inclusive): PG-0111 VeriStrat (81538) PG-0119 DecisionDX-UM PG0122 In Vitro Chemoresistance and Chemosensitivity Assays (81535, 81536) PG0181 Topographic Genotyping Paramount covers cytogenetic studies (88230-88299) when they are reasonable and necessary for the diagnosis or treatment of the following conditions: Genetic disorders (e.g., mongolism) in a fetus Failure of sexual development Chronic myelogenous leukemia Acute leukemias lymphoid (FAB L1-L3), myeloid (FAB M0-M7), and unclassified Mylodysplasia NOTE: Molecular cytogenetics; DNA probe each (88271) will have a limit of 25 units per 365 days. Modifier 91 will not allow for additional units. CODING/BILLING INFORMATION The appearance of a code in this section does not necessarily indicate coverage. Codes that are covered may have selection criteria that must be met. Payment for supplies may be included in payment for other services rendered. Tier 1 Molecular Pathology Procedures 81161 DMD (dystrophin) (e.g., Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, Non-covered Non-covered Non-covered
- 4 - if performed 81162 BRCA1, BRCA2 (breast cancer 1 and 2) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis 81170 ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) (eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain 81200 ASPA (aspartoacylase) (e.g., Canavan disease) gene analysis, common variants (e.g., E285A, Y231X) 81201 APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; full gene sequence 81202 APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; known familial variants 81203 APC (adenomatous polyposis coli) (e.g., familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; duplication/deletion variants 81205 BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (e.g., Maple syrup urine disease) gene analysis, common variants (e.g., R183P, G278S, E422X) 81206 BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative 81207 BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative 81208 BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative 81209 BLM (Bloom syndrome, RecQ helicase-like) (e.g., Bloom syndrome) gene analysis, 2281del6ins7 variant 81210 BRAF (B-Raf proto-oncogene, serine/threonine kinase) (e.g., colon cancer, melanoma), gene analysis, V600 variant(s) 81211 BRCA1, BRCA2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (i.e., exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb) 81212 BRCA1, BRCA2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants 81213 BRCA1, BRCA2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer) gene analysis; uncommon duplication/deletion variants 81214 BRCA1 (breast cancer 1) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (i.e., exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb) 81215 BRCA1 (breast cancer 1) (e.g., hereditary breast and ovarian cancer) gene analysis; known familial variant 81216 BRCA2 (breast cancer 2) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis 81217 BRCA2 (breast cancer 2) (e.g., hereditary breast and ovarian cancer) gene analysis; known familial variant PG0067 Genetic Testing for Breast and Ovarian Cancers Non-covered Non-covered PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer Non-covered Non-covered Non-covered Non-covered PG0067 Genetic Testing for Breast and Ovarian Cancers PG0067 Genetic Testing for Breast and Ovarian Cancers PG0067 Genetic Testing for Breast and Ovarian Cancers PG0067 Genetic Testing for Breast and Ovarian Cancers PG0067 Genetic Testing for Breast and Ovarian Cancers PG0067 Genetic Testing for Breast and Ovarian Cancers PG0067 Genetic Testing for Breast and Ovarian Cancers
- 5-81218 CEBPA (CCAAT/enhancer binding protein [C/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) (e.g., cystic fibrosis) gene analysis; common variants (e.g., ACMG/ACOG guidelines) 81221 CFTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis) gene analysis; known familial variants 81222 CFTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis) gene analysis; duplication/deletion variants 81223 CFTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis) gene analysis; full gene sequence 81224 CFTR (cystic fibrosis transmembrane conductance regulator) (e.g., cystic fibrosis) gene analysis; intron 8 poly-t analysis (e.g., male infertility) 81225 CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) (e.g., drug metabolism), gene analysis, common variants (e.g., *2, *3, *4, *8, *17) 81226 CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (e.g., drug metabolism), gene analysis, common variants (e.g., *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) (e.g., drug metabolism), gene analysis, common variants (e.g., *2, *3, *5, *6) 81228 Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., Bacterial Artificial Chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis) 81229 Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities 81235 EGFR (epidermal growth factor receptor) (e.g., nonsmall cell lung cancer) gene analysis, common variants (e.g., exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) (LCD L32288) 81240 F2 (prothrombin, coagulation factor II) (e.g., hereditary hypercoagulability) gene analysis, 20210G>A variant 81241 F5 (coagulation Factor V) (e.g., hereditary hypercoagulability) gene analysis, Leiden variant 81242 FANCC (Fanconi anemia, complementation group C) (e.g., Fanconi anemia, type C) gene analysis, common variant (e.g., IVS4+4A>T) 81243 FMR1 (Fragile X mental retardation 1) (e.g., fragile X mental retardation) gene analysis; evaluation to detect abnormal (e.g., expanded) alleles 81244 FMR1 (Fragile X mental retardation 1) (e.g., fragile X mental retardation) gene analysis; characterization of alleles (e.g., expanded size and methylation status) 81245 FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; internal tandem duplication (ITD) variants (i.e., exons 14, 15) 81246 FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; tyrosine kinase Non-covered Non-covered PG0296 Comparative Genomic Hybridization (CGH) PG0296 Comparative Genomic Hybridization (CGH) PG0355 Genetic Testing for Hereditary Thrombophilia PG0355 Genetic Testing for Hereditary Thrombophilia Non-covered PG0360 Genetic Testing for FMR1 Mutations Including Fragile X Syndrome PG0360 Genetic Testing for FMR1 Mutations Including Fragile X Syndrome
- 6 - domain (TKD) variants (eg, D835, I836) 81250 G6PC (glucose-6-phosphatase, catalytic subunit) (e.g., Glycogen storage disease, Type 1a, von Gierke disease) gene analysis, common variants (e.g., R83C, Q347X) 81251 GBA (glucosidase, beta, acid) (e.g., Gaucher disease) gene analysis, common variants (e.g., N370S, 84GG, L444P, IVS2+1G>A) 81252 GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (e.g., nonsyndromic hearing loss) gene analysis; full gene sequence (LCD L32288) 81253 GJB2 (gap junction protein, beta 2, 26kDa; connexin 26) (e.g., nonsyndromic hearing loss) gene analysis; known familial variants (LCD L32288) 81254 GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (e.g., nonsyndromic hearing loss) gene analysis, common variants (e.g., 309kb [del(gjb6-d13s1830)] and 232kb [del(gjb6-d13s1854)]) (LCD L32288) 81255 HEXA (hexosaminidase A [alpha polypeptide]) (e.g., Tay-Sachs disease) gene analysis, common variants (e.g., 1278insTATC, 1421+1G>C, G269S) 81256 HFE (hemochromatosis) (e.g., hereditary hemochromatosis) gene analysis, common variants (e.g., C282Y, H63D) 81257 HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g., alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, for common deletions or variant (e.g., Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and Constant Spring) 81260 IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (e.g., familial dysautonomia) gene analysis, common variants (e.g., 2507+6T>C, R696P) 81261 IGH@ (Immunoglobulin heavy chain locus) (e.g., leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); amplified methodology (e.g., polymerase chain reaction) 81262 IGH@ (Immunoglobulin heavy chain locus) (e.g., leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); direct probe methodology (e.g., Southern blot) 81263 IGH@ (Immunoglobulin heavy chain locus) (e.g., leukemia and lymphoma, B-cell), variable region somatic mutation analysis 81264 IGK@ (Immunoglobulin kappa light chain locus) (e.g., 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 (e.g., pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [e.g., 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 (e.g., additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered
- 7 - to code for primary procedure) 81267 Chimerism (engraftment) analysis, post transplantation specimen (e.g., hematopoietic stem cell), includes comparison to previously performed baseline analyses; without cell selection 81268 Chimerism (engraftment) analysis, post transplantation specimen (e.g., hematopoietic stem cell), includes comparison to previously performed baseline analyses; with cell selection (e.g., CD3, CD33), each cell type 81270 JAK2 (Janus kinase 2) (e.g., myeloproliferative disorder) gene analysis, p.val617phe (V617F) variant 81272 KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma), gene analysis, targeted sequence analysis (eg, exons 8, 11, 13, 17, 18) 81273 KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, mastocytosis), gene analysis, D816 variant(s) 81275 KRAS (Kirsten rat sarcoma viral oncogene homolog) (e.g., 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) 81280 Long QT syndrome gene analyses (e.g., KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1, and ANK2); full sequence analysis 81281 Long QT syndrome gene analyses (e.g., KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1, and ANK2); known familial sequence variant 81282 Long QT syndrome gene analyses (e.g., KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1, and ANK2); duplication/deletion variants 81287 MGMT (O-6-methylguanine-DNA methyltransferase) (e.g., glioblastoma multiforme), methylation analysis 81288 LH1 (mutl homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; promoter methylation analysis 81290 MCOLN1 (mucolipin 1) (e.g., Mucolipidosis, type IV) gene analysis, common variants (e.g., IVS3-2A>G, del6.4kb) 81291 MTHFR (5,10-methylenetetrahydrofolate reductase) (e.g., hereditary hypercoagulability) gene analysis, common variants (e.g., 677T, 1298C) 81292 MLH1 (mutl homolog 1, colon cancer, nonpolyposis type 2) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis 81293 MLH1 (mutl homolog 1, colon cancer, nonpolyposis type 2) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81294 MLH1 (mutl homolog 1, colon cancer, nonpolyposis type 2) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; PG0280 Long QT Syndrome (LQTS) PG0280 Long QT Syndrome (LQTS) PG0280 Long QT Syndrome (LQTS) Non-covered Non-covered PG0355 Genetic Testing for Hereditary Thrombophilia PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer
- 8 - duplication/deletion variants 81295 MSH2 (muts homolog 2, colon cancer, nonpolyposis type 1) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis 81296 MSH2 (muts homolog 2, colon cancer, nonpolyposis type 1) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81297 MSH2 (muts homolog 2, colon cancer, nonpolyposis type 1) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants 81298 MSH6 (muts homolog 6 [E. coli]) (e.g. hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis 81299 MSH6 (muts homolog 6 [E. coli]) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81300 MSH6 (muts homolog 6 [E. coli]) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants 81301 Microsatellite instability analysis (e.g., hereditary nonpolyposis colorectal cancer, Lynch syndrome) of markers for mismatch repair deficiency (e.g., BAT25, BAT26), includes comparison of neoplastic and normal tissue, if performed 81302 MECP2 (methyl CpG binding protein 2) (e.g., Rett syndrome) gene analysis; full sequence analysis 81303 MECP2 (methyl CpG binding protein 2) (e.g., Rett syndrome) gene analysis; known familial variant 81304 MECP2 (methyl CpG binding protein 2) (e.g., Rett syndrome) gene analysis; duplication/ deletion variants 81310 NPM1 (nucleophosmin) (e.g., acute myeloid leukemia) gene analysis, exon 12 variants 81311 NRAS (neuroblastoma RAS viral [v-ras] oncogene homolog) (eg, colorectal carcinoma), gene analysis, variants in exon 2 (eg, codons 12 and 13) and exon 3 (eg, codon 61) 81313 PCA3/KLK3 (prostate cancer antigen 3 [non-protein coding]/kallikrein-related peptidase 3 [prostate specific antigen]) ratio (eg, prostate cancer) 81314 PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18) 81315 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 81316 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 81317 PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer Non-covered Non-covered Non-covered PG0302 Genetic Testing for Colorectal Cancer
- 9 - sequence analysis 81318 PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants 81319 PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants 81321 PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis (LCD L32288) 81322 PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant (LCD L32288) 81323 PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant (LCD L32288) 81324 PMP22 (peripheral myelin protein 22) (e.g., Charcot- Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis (LCD L32288) 81325 PMP22 (peripheral myelin protein 22) (e.g., Charcot- Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; full sequence analysis (LCD L32288) 81326 PMP22 (peripheral myelin protein 22) (e.g., Charcot- Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; known familial variant (LCD L32288) 81330 SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (e.g., Niemann-Pick disease, Type A) gene analysis, common variants (e.g., R496L, L302P, fsp330) 81331 SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A) (e.g., Prader-Willi syndrome and/or Angelman syndrome), methylation analysis 81332 SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (e.g., alpha-1-antitrypsin deficiency), gene analysis, common variants (e.g., *S and *Z) 81340 TRB@ (T cell antigen receptor, beta) (e.g., leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using amplification methodology (e.g., polymerase chain reaction) 81341 TRB@ (T cell antigen receptor, beta) (e.g., leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using direct probe methodology (e.g., Southern blot) 81342 TRG@ (T cell antigen receptor, gamma) (e.g., leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) 81350 UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (e.g., irinotecan metabolism), gene analysis, common variants (e.g., *28, *36, *37) 81355 VKORC1 (vitamin K epoxide reductase complex, subunit 1) (e.g., warfarin metabolism), gene analysis, PG0302 Genetic Testing for Colorectal Cancer PG0302 Genetic Testing for Colorectal Cancer PG0336 PTEN Gene Testing PG0336 PTEN Gene Testing PG0336 PTEN Gene Testing Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered
- 10 - common variant(s) (e.g., -1639G>A, c.173+1000c>t) 81370 HLA Class I and II typing, low resolution (e.g., antigen equivalents); HLA-A, -B, -C, -DRB1/3/4/5, and -DQB1 81371 HLA Class I and II typing, low resolution (e.g., antigen equivalents); HLA-A, -B, and -DRB1/3/4/5 (e.g., verification typing) 81372 HLA Class I typing, low resolution (e.g., antigen equivalents); complete (i.e., HLA-A, -B, and -C) 81373 HLA Class I typing, low resolution (e.g., antigen equivalents); one locus (e.g., HLA-A, -B, or -C), each 81374 HLA Class I typing, low resolution (e.g., antigen equivalents); one antigen equivalent (e.g., B*27), each 81375 HLA Class II typing, low resolution (e.g., antigen equivalents); HLA-DRB1/3/4/5 and -DQB1 81376 HLA Class II typing, low resolution (e.g., antigen equivalents); one locus (e.g., HLA-DRB1/3/4/5, - DQB1, -DQA1, -DPB1, or -DPA1), each 81377 HLA Class II typing, low resolution (e.g., antigen equivalents); one antigen equivalent, each 81378 HLA Class I typing, high resolution (i.e., alleles or allele groups); complete (i.e., HLA-A, -B, and -C) 81379 HLA Class I typing, high resolution (i.e., alleles or allele groups); complete (i.e., HLA-A, -B, and -C) 81380 HLA Class I typing, high resolution (i.e., alleles or allele groups); one locus (e.g., HLA-A, -B, or -C), each 81381 HLA Class I typing, high resolution (i.e., alleles or allele groups); one allele or allele group (e.g., B*57:01P), each 81382 HLA Class II typing, high resolution (i.e., alleles or allele groups); one locus (e.g., HLA-DRB1, -DRB3, - DRB4, -DRB5, -DQB1, -DQA1, -DPB1, or -DPA1), each 81383 HLA Class II typing, high resolution (i.e., alleles or allele groups); one allele or allele group (e.g., HLA- DQB1*06:02P), each Tier 2 Molecular Pathology Procedures 81400 Molecular pathology procedure, Level 1 analysis)(e.g., identification of single germline variant [e.g., SNP] by techniques such as restriction enzyme digestion or melt curve analysis) ALL REQUIRE PRIOR AUTHORIZATION for all product lines Non-covered genes for all product lines (this list may not be all-inclusive): ABCC8, F1388del ACADM, K304E AGTR1, 1166A>C BCKDHA, Y438n CCR5, del CLRN1, N48K DPYD, IVS14+1G>A FGFR1, P252R FGFR3, P250R FKTN, retro ins v GNE, M712T
- 11-81400 Molecular pathology procedure, Level 1 analysis)(e.g., identification of single germline variant [e.g., SNP] by techniques such as restriction enzyme digestion or melt curve analysis) 81401 Molecular pathology procedure, Level 2 (e.g., 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) HPA-6 HPA-9 IVD, A282V LCT, 13910 C>T NEB, exon 55 PCDH15, R245X SHOC2, S2G SLCO1B1, V174A SMN1, exon 7 del SRY, fgs TOR1A, var for all product lines PG0065 Colorectal Cancer Screening Non-covered genes for all product lines (this list may not be all-inclusive): ABCC8, cv ACADM, cv ADRB2, cv AFF2, detect abn APOB, cv APOE, cv AR, alleles ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS CACNA1A CBS, cv CFH_ARMS2, cv CNBP CSTB CYP3A4, cv CYP3A5, cv DEK/NUP214, ta DMPK, detect eval EML4_ALK, ta or ia ETV6/NTRK3 EWSR1_ATF1 FGFR3, cv FLG, cv FUS/DDIT3 FXN, alleles GALC, cv GALT, cv H19, ma HBB, cv HTT, alleles KCNQ1OT1, ma
- 12-81401 Molecular pathology procedure, Level 2 (e.g., 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) LRRK2, cv MED12, cv MEG3_DLK1, ma MLL_AFF1, ta qual quan MLL_MLLT3, ta, qual quan MT-ATP6, cv MT-ND4, MT-ND6, cv MT-ND5, cv MT-RNR1, cv MT-TK, cv MT-TL1, cv MT-TS1_MT-RNR1, cv NOD2 NPM1_ALK, ta PABPN1 PPP2R2B PRSS1, cv PYGM, cv SEPT9, ma SMN1_SMN2, dosage SMN1_SMN2, dup_del SS18_SSX1, ta SS18_SSX2, ta TBP, aa for all product lines Non-covered genes for all product lines (this list may not be all-inclusive): C18q C1p-/19q, del COL1A1/PDGFB, mbp qual quan CYP21A2, cv ESR1_PGR, ratio MEFV, cv MPL, cv TRD, delta UPD, str for all product lines PG0302 Genetic Testing for Colorectal Cancer Non-covered genes for all product lines (this list may not be all-inclusive): ACADS, kfv ACADVL, kfv ACTA2, kfv ANG, fgs ARX, d_d BTD, kfv CASR, kfv CDH1, kfv CEL, exon 11 COL1A2, kfv CTNNB1, tsa
- 13-81403 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) CTNNB1, tsa CYP21A2, kfv DAZ_SRY, cdel DHCR7, kfv DLAT, kfv DLD, kfv DNMT3A, tsa ENG, kfv F12, ts ex 9 F9, kfv FBN1, kfv FGFR2, kfv FGFR3, exon 7 FGFR3, kfv FH, kfv GAA, kfv GALT, kfv GJB1, fgs GLA, kfv GNAQ, cv GRN, kfv HBB, dup_del HEXA, kfv HRAS, exon 2 JAG1, kfv KCNC3, tsa KCNJ11, fgs KCNJ2, fgs Killer cell imm-like receptor KRAS, exon 3 KRAS, kfv LDLR, kfv MAPT, kfv MC4R, fgs MECP2, kfv MEFV, kfv MEN1, kfv MICA, cv MMACHC, kfv MPL, exon 10 MT-RNR1, fgs MT-RNR1_MT-TS1, kfv MT-TS1, fgs NDP, d_d NHLRC1, fgs NR0B1, kfv PC, kfv PDHA1, kfv PDHB, kfv PDHX, kfv PHOX2B, dup_del PLN, fgs
- 14-81403 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) PRSS1, kfv PTPN11, kfv RHD, del a RHD, maternal SDH, kfv SH2D1A, dup_del SMN1, kfv TGFBR1, kfv TGFBR2, kfv TTR, kfv TWIST, kfv TWIST1, dup_del UBA1, tsa VKORC1, kfv for all product lines Non-covered genes for all product lines (this list may not be all-inclusive): ACADS, tsa AFF2, characterize AQP2, fgs ARX, fgs AVPR2, fgs BBS10, fgs BTD, fgs C10orf2, fgs CAV3, fgs CD40LG, fgs CLRN1, fgs COX6B1, fgs CPT2, fgs CRX, fgs CSTB, fgs CYP1B1, fgs DMPK, characterize alleles EGR2, fgs EMD, Dup_del EPM2A, fgs FGF23, fgs FGFR2, tsa FGFR3, tsa FHL1, fgs FKRP, fgs FOXG1, fgs FSHMD1A, ab a FSHMD1A, hap FXN, fgs GH1, fgs GP1BB, fgs HBA1_HBA2, dup_del HBB, fgs HNF1B, dup_del HRAS, fgs
- 15-81404 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) HSD11B2, fgs HSD3B2, fgs HSPB1, fgs INS, fgs KCNJ1, fgs KCNJ10, fgs LITAF, fgs MEFV, fgs MEN1, dup_del MMACHC, fgs MPV17, dup_del NDP, fgs NDUFA1, fgs NDUFAF2, fgs NDUFS4, fgs NIPA1, fgs NLGN4X, dup_del NPC2, fgs NR0B1, fgs PDX1, fgs PHOX2B, fgs PIK3CA, tsa PLP1, Dup_del PQBP1, Dup_del PRNP, fgs PROP1, fgs PRPH2, fgs RAF1, tsa RHO, fgs RP1, fgs SCN1B, fgs SCO2, fgs SDHC, dup_del SDHD, fgs SGCG, dup_del SH2D1A, fgs SLC16A2, dup_del SLC25A20, dup_del SLC25A4, fgs SOD1, fgs SPINK1, fgs STK11, dup_del TACO1, fgs THAP1, fgs TOR1A, fgs TP53, 2-5 exons TTPA, fgs TTR, fgs TWIST1, fgs TYR, fgs USH1G, fgs VWF, tsa
- 16-81404 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) ZEB2, dup_del ZNF41, fgs for all product lines Non-covered genes for all product lines (this list may not be all-inclusive): ABCD1, fgs ACADS, fgs ACTA2, fgs ACTC1, fgs ANKRD1, fgs APTX, fgs AR, fgs ARSA, fgs BCKDHA, fgs BCS1L, fgs BMPR2, dup_del CASQ2, fgs CASR, fgs CDKL5, dup_del CHRNA4, fgs CHRNB2, fgs COX10, fgs COX15, fgs CYP11B1, fgs CYP17A1, fgs CYP21A2, fgs DBT, dup_del DCX, fgs DES, fgs DFNB59, fgs DGUOK, fgs DHCR7, fgs EIF2B2, fgs EMD, fgs ENG, dup_del EYA1, dup_del F9, fgs FGFR1, fgs FH, fgs FKTN, fgs FTSJ1, dup_del GABRG2, fgs GCH1, fgs GDAP1, fgs GFAP, fgs GHR, fgs GHRHR, fgs GLA, fgs HBA1_HBA2, fgs HNF1A, fgs
- 17-81405 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) HNF1B, fgs HTRA1, fgs IDS, fgs IL2RG, fgs ISPD, fgs KRAS, fgs LAMP2, fgs LDLR, dup_del MMAA, fgs MMAB, fgs MPI, fgs MPV17, fgs MPZ, fgs MTM1, dup_del MYL2, fgs MYL3, fgs MYOT, fgs NDUFS7, fgs NDUFS8, fgs NDUFV1, fgs NEFL, fgs NF2, dup_del NLGN3, fgs NLGN4X, fgs NPHP1, dup_del NPHS2, fgs NSD1, dup_del OTC, fgs PAFAH1B1, dup_del PARK2, dup_del PCCA, dup_del PCDH19, fgs PDHA1, dup_del PDHB, fgs PINK1, fgs PLP1, fgs POU1F1, fgs PQBP1, fgs PRX, fgs PSEN1, fgs RAB7A, fgs RAI1, fgs REEP1, fgs RPS19, fgs RRM2B, fgs SCO1, fgs SDHB, fgs SDHC, fgs SGCA, fgs SGCB, fgs SGCD, fgs SGCE, dup_del
- 18-81405 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 (e.g., analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia) SGCG, fgs SHOC2, fgs SHOX, fgs SIL1, fgs SLC16A2, fgs SLC22A5, fgs SLC25A20, fgs SLC2A1, fgs SMAD4, dup_del SMN1, fgs SPAST, dup_del SPG7, dup_del SPRED1, fgs STAT3, tsa STK11, fgs SURF1, fgs TARDBP, fgs TBX5, fgs TCF4, dup_del TGFBR1, fgs TGFBR2, fgs THRB, fgs_tsa >5 exons TK2, fgs TNNC1, fgs TNNI3, fgs TP53, fgs or tsa >5 exons TPM1, fgs TSC1, dup_del TYMP, fgs WT1, fgs ZEB2, fgs for all product lines PG0280 Long QT Syndrome (LQTS) Non-covered genes for all product lines (this list may not be all-inclusive): ACADVL, fgs ACTN4, fgs AFG3L2, fgs AIRE, fgs ALDH7A1, fgs ANO5, fgs APP, fgs ASS1, fgs ATL1, fgs ATP1A2, fgs ATP7B, fgs BBS1, fgs BBS2, fgs BCKDHB, fgs BEST1, fgs BMPR2, fgs
- 19-81406 Molecular pathology procedure, Level 7 (e.g., analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia) BRAF, fgs BSCL2, fgs BTK, fgs CACNB2, fgs CAPN3, fgs CBS, fgs CDH1, fgs CDKL5, fgs CLCN1, fgs CLCNKB, fgs CNTNAP2, fgs COL6A2, dup_del CPT1A, fgs CRB1, fgs CREBBP, dup_del DBT, fgs DLAT, fgs DLD, fgs DSC2, fgs DSG2, fgs DSP, fgs EFHC1, fgs EIF2B3, fgs EIF2B4, fgs EIF2B5, fgs ENG, fgs EYA1, fgs F8, dup_del FAH, fgs FASTKD2, fgs FIG4, fgs FTSJ1, fgs FUS, fgs GAA, fgs GALC, fgs GALT, fgs GARS, fgs GCDH, fgs GCK, fgs GLUD1, fgs GNE, fgs GRN, fgs HADHA, fgs HADHB,fgs HEXA, fgs HLCS, fgs HNF4A, fgs IDUA, fgs INF2, fgs IVD, fgs JAG1, dup_del JUP, fgs
- 20-81406 Molecular pathology procedure, Level 7 (e.g., analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia) KAL1, fgs KCNH2, fgs KCNQ1, fgs KCNQ2, fgs LDB3, fgs LDLR, fgs LEPR, fgs LHCGR, fgs LMNA, fgs LRP5, fgs MAP2K1, fgs MAP2K2, fgs MAPT, fgs MCCC1, fgs MCCC2, fgs MFN2, fgs Microarray, Neoplasia MTM1, fgs MUT, fgs MUTYH, fgs NDUFS1, fgs NF2, fgs NOTCH3, tsa NPC1, fgs NPHP1, fgs NSD1, fgs OPA1, dup_del OPTN, fgs PAFAH1B1, fgs PAH, fgs PALB2, fgs PARK2, fgs PAX2, fgs PC, fgs PCCA, fgs PCCB, fgs PCDH15, dup_del PCSK, fgs PDHA1, fgs PDHX, fgs PHEX, fgs PKD2, fgs PKP2, fgs PNKD, fgs POLG, fgs POMGNT1, fgs POMT1, fgs POMT2, fgs PRKAG2, fgs PRKCG, fgs PSEN2, fgs PTPN11, fgs
- 21-81406 Molecular pathology procedure, Level 7 (e.g., 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 (e.g., 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) SCN1A (sodium channel, voltagegated, type 1, alpha subunit) (e.g., generalized epilepsy with febrile seizures), full gene sequence PYGM, fgs RAF1, fgs RPE65, fgs RYR1, tsa SCN4A, fgs SCNN1A, fgs SCNN1B, fgs SCNN1G, fgs SDHA, fgs SETX, fgs SGCE, fgs SH3TC2, fgs SLC26A4, fgs SLC37A4, fgs SLC9A6, fgs SMAD4, fgs SOS1, fgs SPAST, fgs SPG7, fgs STXBP1, fgs TAZ, fgs TCF4, fgs TH, fgs TMEM43, fgs TNNT2, fgs TRPC6, fgs TSC1, fgs TSC2, dup_del UBE3A, fgs UMOD, fgs VWF, etsa WAS, fgs for all product lines Non-covered genes for all product lines (this list may not be all-inclusive): ABCC8, fgs AGL, fgs AHI1, fgs ASPM, fgs CACNA1A, fgs CHD7, fgs COL4A4, fgs COL4A5, dup_del COL6A1, fgs COL6A2, fgs COL6A3, fgs CREBBP, fgs F8, fgs JAG1, fgs KDM5C, fgs KIAA0196, fgs L1CAM, fgs
81407 Molecular pathology procedure, Level 8 (e.g., 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) SCN1A (sodium channel, voltagegated, type 1, alpha subunit) (e.g., generalized epilepsy with febrile seizures), full gene sequence 81408 Molecular pathology procedure, Level 9 (e.g., analysis of >50 exons in a single gene by DNA sequence analysis) FBN1 (fibrillin 1) (e.g., Marfan syndrome), full gene sequence NF1 (neurofibromin 1) (e.g., neurofibromatosis, type 1), full gene sequence RYR1 (ryanodine receptor 1, skeletal) (e.g., malignant hyperthermia), full gene sequence VWF (von Willebrand factor) (e.g., von Willebrand disease types 1 and 3), full gene sequence - 22 - LAMB2, fgs MYBPC3, fgs MYH6, fgs MYH7, fgs MYO7A, fgs NOTCH1, fgs NPHS1, fgs OPA1, fgs PCDH15, fgs PKD1, fgs PLCE1, fgs SCN1A, fgs SCN5A, fgs SLC12A1, fgs SLC12A3, fgs SPG11, fgs SPTBN2, fgs TMEM67, fgs TSC2, fgs USH1C, fgs VPS13B, dup_del WDR62, fgs for all product lines Non-covered genes for all product lines (this list may not be all-inclusive): ABCA4, fgs ATM, fgs CDH23, fgs CEP290, fgs COL1A1, fgs COL1A2, fgs COL4A1, fgs COL4A3, fgs COL4A5, fgs DMD, fgs DYSF, fgs FBN1, fgs ITPR1, fgs LAMA2, fgs LRRK2, fgs MYH11, fgs NEB, fgs NF1, fgs PKHD1, fgs RYR1, fgs RYR2, fgs or tsa > 50 USH2A, fgs VPS13B, fgs VWF, fgs 81479 Unlisted molecular pathology procedure for all product lines PG0301 Genetic Expression Assays for Breast Cancer Prognosis
- 23-81479 Unlisted molecular pathology procedure PG0368 GeneSight Assay for Refractory Depression Non-covered genes for all product lines (this list may not be all-inclusive): Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) BLUEPRINT HTTLPR myrisk 4q25-AF 9p21 ABCB1, cv ACADM, fgs ACADM, panel ACADVL, d_d ACADVL, panel ACSL4, fgs ACVRL1, d_d ACVRL1, ENG ACVRL1, ENG, kfv ACVRL1, ENG, SMAD4 ADAMTS13 ADRA2A AFP AGA AGXT ALDOB ALG6, fgs ALPL, fgs ALPL, kfv ANK3 ANKK1 APC, panel APP, panel ARSB, fgs AR-V7 ARX, panel ASHKENAZI JEWISH PNL, < 9 ASXL, dup_del ASXL1, fgs ASXL1, tsa ATP7A, fgs ATRX AZF BAALC BAG3 BARD1 BCOR, tsa BDNF BLM, fgs BMPR1A BMPR2, panel BRAF, panel BSND, fgs
- 24-81479 Unlisted molecular pathology procedure C9ORF72 CACNA1C CALR CAPN3, dup_del CARD11 CASK, fgs CBL, tsa CC2D2A, fgs CCM, panel CCM2 CCM2, panel CCM3 CD79B CDH1, dup_del CDH1, panel CDH1, tsa CDKL5, panel CDKN1C CFTR, panel CFTR, PRSS1, SPINK1 CHEK2, kfv CHEK2, panel CLLU1 CLN3 COL3A1, dup_del COL3A1, fgs COL4A5, panel COMT CPOX, fgs CPOX, kfv CRTAP, kfv CRYAB CSF3R, ma CSF3R, tsa CTRC CTSA, fgs CYP1A1 CYP1A2 CYP1B1, tsa CYP21A2, panel CYP2B6 CYP2C8 CYP3A4, CYP3A5 CYP4F2 CYP7B1, fgs DDR2 DMD, panel DMPK, panel DNM2, fgs DRD, panel DRD1 DRD2
- 25-81479 Unlisted molecular pathology procedure DRD4 EDA, tsa EGFR, KRAS, ALK EGFR, KRAS, BRAF EGFR, tsa EGFRvIII EIF2B1, fgs EIF2B2, panel ELANE EPOR ETV6 EZH2 F2, F5 F2, F5, MTHFR FBN1, dup_del FBN1, panel FBN1, tsa FECH, fgs FECH, kfv FGD1 FGD4, fgs FGF8, fgs FGFR panel FKBP10, fgs FKBP10, kfv FKBP5 FKTN, 1167 FLCN, fgs FMR1, panel FOXG1, dup_del FOXG1, panel FUCA1, fgs FXN, panel G6PD GAA, cv GABRA6 GALC, panel GALNS, fgs GATA1 GBA, fgs GCH1, del GCK, panel GJB, panel GJC2, fgs GLB1, fgs GLI3, fgs GNA11 GNAS GNRH1, fgs GNRHR, fgs GNS, fgs GRIK1
- 26-81479 Unlisted molecular pathology procedure GRIK4 GYS2, fgs HADHA, tsa HAX1 HBA1, fgs HGSNAT, fgs HIF2A HLA, hybrid HNF1A, panel HNF1B, panel HNF4A, panel HOXB13 HP, panel HP1 HSPB8, fgs HTR2, panel HTR2A, cv HTR2C, cv IFITM5, fgs IFNL3 IGHMBP2 INSR ITGA2 JAG1, panel JAK2, panel JAK3 KDM6A, fgs KEL KIF5A, fgs KIF6 KISS1R, fgs KIT, fgs KMT2A/MLL-PTD KMT2D, sa KRAS, panel KRAS, tsa KRIT1, dup_del KRIT1, fgs KRIT1, panel L1CAM, panel LCHAD LMNA, dup_del LPA LPA, ASA MAN2B MANBA MCCC1, MCCC2, panel MCM6 MCPH1, fgs MCT8 MECP2, panel MEF2C, del
- 27-81479 Unlisted molecular pathology procedure MEF2C, fgs MEF2C, panel MEFV, panel MEN1, panel MET Microarray, panel MID1, fgs MLL MLYCD, fgs MLYCD, kfv MTMR2, fgs MUTYH, dup_del MUTYH, panel MYH3, exon 17 MYLK, fgs NAA10 NAGLU, fgs NAT2 NBN1 NCF1 NDRG1, fgs NET NEU1, fgs NF1, dup_del NF1, panel NF2, panel NPC1_NPC2, fgs NPC1_NPC2, kfv NSD1, panel NTRK1, fgs OPHN1, fgs OPRD1 OPRK1 OPRM1 OTC, dup_del OTC, panel OXCT1, fgs P3H1, kfv PABP2 PALB2, panel PARK7, dup_del PARK7, fgs PAX6, panel PDCD10, dup_del PDCD10, fgs PDCD10, panel PHD2 PHF6, fgs PINK1, dup_del PLOD1 PLOD2, fgs PLP1, panel
- 28-81479 Unlisted molecular pathology procedure PMM2, fgs PMP22, panel POLG, tsa PRKG1, fgs PROK2, fgs PROKR2, fgs PRRT2, fgs PTCH PTEN, tsa PTPN11, tsa PTPN22 RAD21, tsa RAS, panel RASA1 RB1 REEP1, dup_del RhCE RPL19 RPL26 RPS6KA3, fgs RRM1 RUNX1, tsa SBDS SBF2, fgs SCA1 SCA10 SCA12 SCA13, tsa SCA14 SCA17 SCA2 SCA5 SCA6 SCA7 SCA8 SCN1A, dup_del SCN1A, panel SDH, kfv SDH, panel SDHAF2, fgs SDHB, panel SDHC, panel SDHD, panel SEPT9, fgs SEPT9, panel SERPINA1, fgs SERPINA1, panel SERPINA10, rs2232698 SERPING1, kfv SETBP1, tsa SF3B1, tsa SFTPB
- 29-81479 Unlisted molecular pathology procedure SFTPC SGCA, dup_del SGSH, fgs SHANK2, fgs SHANK3 shox, panel SLC22A5, dup_del SLC22A5, panel SLC25A13, fgs SLC47A1 SLC6A4 SLC6A8, fgs SLCO1B1, tsa SLCO2A1, kfv SMAD3, fgs SMAD3, kfv SMAD4, kfv SMAD4, panel SMC1A, fgs SMC3, tsa SMN1_SMN2, fgs SMN1_SMN2, panel SMPD1, fgs SNCA, dup_del SNCA, fgs SPAST, panel SPG21, kfv SPRED1, dup_del SPTLC1, fgs SPTLC2, fgs SRSF2, tsa STAG2, tsa STAR STK11, panel STR, panel SULT4A1 SYNGAP1, fgs SYT, panel SYT-SSX, ta TACI, fgs TACR3, fgs TBX5, panel TERT/TERC TET2, fgs TET2, tsa TGFB2, kfv TGFBR1/TGFBR2 TMEM216, cv TMEM216, fgs TP53, panel TRB, panel TRPV4, fgs
- 30-81479 Unlisted molecular pathology procedure TSC1, TSC2 U2AF1, tsa UBQL1 UBQLN2 UGT2B15, tsa UGT2B7, tsa VCP VEGF, fgs VEGF, tsa VEGFR2 VWF, D1472H VWF, panel WNK1, fgs WRAP53 WT1, tsa YARS, fgs ZAP70, ma ZFYVE26, fgs ZRSR2, tsa Molecular Multianalyte Assays (MAA) 81410 81411 81412 81415 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 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 Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1 Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis Exome (eg, unexplained constitutional or heritable 81416 disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure) Exome (eg, unexplained constitutional or heritable 81417 disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome) 81420 Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21 Genome (eg, unexplained constitutional or heritable 81425 disorder or syndrome); sequence analysis 81426 Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator genome (eg, parents, siblings) (List Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered PG0287 Cell-Free DNA Tests For Fetal Aneuploidy Non-covered Non-covered Non-covered Non-covered
- 31-81427 81430 81431 81432 81433 81434 81435 81436 81437 81438 81440 separately in addition to code for primary procedure) Genome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained genome sequence (eg, updated knowledge or unrelated condition/syndrome) 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 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 Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); genomic sequence analysis panel, must include sequencing of at least 14 genes, including ATM, BRCA1, BRCA2, BRIP1, CDH1, MLH1, MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, STK11, and TP53 Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); duplication/deletion analysis panel, must include analyses for BRCA1, BRCA2, MLH1, MSH2, and STK11 Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); genomic sequence analysis panel, must include analysis of at least 10 genes, including APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4 and STK11 Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); duplication/deletion gene analysis panel, must include analysis of at least 5 genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11 Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma; genomic sequence analysis panel, must include sequencing of at least 6 genes, including MAX, SDHB, SDHC, SDHD, TMEM127, and VHL Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma; duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered PG0067 Genetic Testing for Breast and Ovarian Cancers PG0336 PTEN Gene Testing PG0067 Genetic Testing for Breast and Ovarian Cancers Non-covered Non-covered PG0336 PTEN Gene Testing PG0336 PTEN Gene Testing Non-covered Non-covered Non-covered Non-covered
- 32 - BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP Noonan spectrum disorders (eg, Noonan syndrome, 81442 cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan-like syndrome), genomic sequence analysis panel, must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1 81445 Targeted genomic sequence analysis panel, solid organ neoplasm, DNA analysis, and RNA analysis when performed, 5-50 genes (eg, ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, NRAS, MET, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed 81450 Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, DNA analysis, and RNA analysis when performed, 5-50 genes (eg, BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KRAS, KIT, MLL, NRAS, NPM1, NOTCH1), interrogation for sequence variants, and copy number variants or rearrangements, or isoform expression or mrna expression levels, if performed 81455 Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm, DNA analysis, and RNA analysis when performed, 51 or greater genes (eg, ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NPM1, NRAS, MET, NOTCH1, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed Whole mitochondrial genome (eg, Leigh syndrome, 81460 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 Whole mitochondrial genome large deletion analysis 81465 panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed X-linked intellectual disability (XLID) (eg, syndromic 81470 and non-syndromic XLID); genomic sequence analysis panel, must include sequencing of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2 X-linked intellectual disability (XLID) (eg, syndromic 81471 and non-syndromic XLID); duplication/deletion gene analysis, must include analysis of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2 Multianalyte Assays with Algorithmic Analyses (MAAA) 81490 Autoimmune (rheumatoid arthritis), analysis of 12 biomarkers using immunoassays, utilizing serum, prognostic algorithm reported as a disease activity Non-covered Non-covered PG0336 PTEN Gene Testing & PG0067 Genetic Testing for Breast and Ovarian Cancers PG0336 PTEN Gene Testing & PG0067 Genetic Testing for Breast and Ovarian Cancers Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered PG0362 Vectra DA
- 33 - score 81493 Coronary artery disease, mrna, gene expression profiling by real-time RT-PCR of 23 genes, utilizing whole peripheral blood, algorithm reported as a risk score 81500 Oncology (ovarian), biochemical assays of two proteins (CA-125 and HE-4), utilizing serum, with menopausal status, algorithm reported as a risk score 81503 Oncology (ovarian), biochemical assays of five proteins (CA-125, apolipoprotein A1, beta-2 microglobulin, transferring, and pre-albumin), utilizing serum, algorithm reported as a risk score 81504 Oncology (tissue of origin), microarray gene expression profiling of > 2000 genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as tissue similarity scores 81506 Endocrinology (type 2 diabetes), biochemical assays of seven analytes (glucose, HbA1c, insulin, hs-crp, adiponectin, ferritin, interleukin 2-receptor alpha), utilizing serum or plasma, algorithm reporting a risk score 81507 Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy 81508 Fetal congenital abnormalities, biochemical assays of two proteins (PAPP-A, hcg [any form]), utilizing maternal serum, algorithm reported as a risk score 81509 Fetal congenital abnormalities, biochemical assays of three proteins (PAPP-A, hcg [any form], DIA), utilizing maternal serum, algorithm reported as a risk score 81510 Fetal congenital abnormalities, biochemical assays of three analytes (AFP, ue3, hcg [any form]), utilizing maternal serum, algorithm reported as a risk score 81511 Fetal congenital abnormalities, biochemical assays of four analytes (AFP, ue3, hcg [any form], DIA) utilizing maternal serum, algorithm reported as a risk score (may include additional results from previous biochemical testing) 81512 Fetal congenital abnormalities, biochemical assays of five analytes (AFP, ue3, total hcg, hyperglycosylated hcg, DIA) utilizing maternal serum, algorithm reported as a risk score 81519 Oncology (breast), mrna, gene expression profiling by real-time RT-PCR of 21 genes, utilizing formalinfixed paraffin embedded tissue, algorithm reported as recurrence score 81525 Oncology (colon), mrna, gene expression profiling by real-time RT-PCR of 12 genes (7 content and 5 housekeeping), utilizing formalin-fixed paraffinembedded tissue, algorithm reported as a recurrence score 81528 Oncology (colorectal) screening, quantitative realtime 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 81535 Oncology (gynecologic), live tumor cell culture and chemotherapeutic response by DAPI stain and morphology, predictive algorithm reported as a drug response score; first single drug or drug combination PG0363 CORUS CAD Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered PG0287 Cell-Free DNA Tests For Fetal Aneuploidy Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered PG0301 Genetic Expression Assays for Breast Cancer Prognosis PG0357 Gene Expression Profiling for Colorectal Cancer PG0065 Colorectal Cancer Screening PG0122 In Vitro Chemoresistance and Chemosensitivity Assays
- 34-81536 Oncology (gynecologic), live tumor cell culture and chemotherapeutic response by DAPI stain and morphology, predictive algorithm reported as a drug response score; each additional single drug or drug combination (List separately in addition to code for primary procedure) 81538 Oncology (lung), mass spectrometric 8-protein signature, including amyloid A, utilizing serum, prognostic and predictive algorithm reported as good versus poor overall survival 81540 Oncology (tumor of unknown origin), mrna, gene expression profiling by real-time RT-PCR of 92 genes (87 content and 5 housekeeping) to classify tumor into main cancer type and subtype, utilizing formalinfixed paraffin-embedded tissue, algorithm reported as a probability of a predicted main cancer type and subtype 81545 Oncology (thyroid), gene expression analysis of 142 genes, utilizing fine needle aspirate, algorithm reported as a categorical result (eg, benign or suspicious) 81595 Cardiology (heart transplant), mrna, gene expression profiling by real-time quantitative PCR of 20 genes (11 content and 9 housekeeping), utilizing subfraction of peripheral blood, algorithm reported as PG0122 In Vitro Chemoresistance and Chemosensitivity Assays PG0111 VeriStrat PG0364 Cancer Type ID PG0298 Afirma Thyroid FNA Analysis & PG0334 ThyroSeq PG0340 AlloMap Molecular-Expression Blood Test a rejection risk score 81599 Unlisted multianalyte assay with algorithmic analysis Non-covered Non-covered Non-covered Cytogenetic Studies 88230 Tissue culture for non-neoplastic disorders; lymphocyte 88233 Tissue culture for non-neoplastic disorders; skin or other solid tissue biopsy 88235 Tissue culture for non-neoplastic disorders; amniotic fluid or chorionic villus cells 88237 Tissue culture for neoplastic disorders; bone marrow, blood cells 88239 Tissue culture for neoplastic disorders; solid tumor 88240 Cryopreservation, freezing and storage of cells, each cell line 88241 Thawing and expansion of frozen cells, each aliquot 88245 Chromosome analysis for breakage syndromes; baseline Sister Chromatid Exchange (SCE), 20-25 cells 88248 Chromosome analysis for breakage syndromes; baseline breakage, score 50-100 cells, count 20 cells, 2 karyotypes (eg, for ataxia telangiectasia, Fanconi anemia, fragile X) 88249 Chromosome analysis for breakage syndromes; score 100 cells, clastogen stress (eg, diepoxybutane, mitomycin C, ionizing radiation, UV radiation) 88261 Chromosome analysis; count 5 cells, 1 karyotype, with banding 88262 Chromosome analysis; count 15-20 cells, 2 karyotypes, with banding 88263 Chromosome analysis; count 45 cells for mosaicism, 2 karyotypes, with banding 88264 Chromosome analysis; analyze 20-25 cells 88267 Chromosome analysis, amniotic fluid or chorionic villus, count 15 cells, 1 karyotype, with banding 88269 Chromosome analysis, in situ for amniotic fluid cells, count cells from 6-12 colonies, 1 karyotype, with banding
- 35-88271 Molecular cytogenetics; DNA probe, each (eg, FISH) Limit of 25 88272 Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for derivatives and markers) 88273 Molecular cytogenetics; chromosomal in situ hybridization, analyze 10-30 cells (eg, for microdeletions) 88274 Molecular cytogenetics; interphase in situ hybridization, analyze 25-99 cells 88275 Molecular cytogenetics; interphase in situ hybridization, analyze 100-300 cells 88280 Chromosome analysis; additional karyotypes, each study 88283 Chromosome analysis; additional specialized banding technique (eg, NOR, C-banding) 88285 Chromosome analysis; additional cells counted, each study 88289 Chromosome analysis; additional high resolution study 88291 Cytogenetics and molecular cytogenetics, interpretation and report 88299 Unlisted cytogenetic study Proprietary MAA 0001M Infectious disease, HCV, six biochemical assays (ALT, A2-macroglobulin, apolipoprotein A-1, total bilirubin, GGT, and haptoglobin) utilizing serum, prognostic algorithm reported as scores for fibrosis and necroinflammatory activity in liver 0002M Liver disease, ten biochemical assays (ALT, A2- macroglobulin, apolipoprotein A-1, total bilirubin, GGT, haptoglobin, AST, glucose, total cholesterol and triglycerides) utilizing serum, prognostic algorithm reported as quantitative scores for fibrosis, steatosis and alcoholic steatohepatitis (ASH) 0003M Liver disease, ten biochemical assays (ALT, A2- macroglobulin, apolipoprotein A-1, total bilirubin, GGT, haptoglobin, AST, glucose, total cholesterol and triglycerides) utilizing serum, prognostic algorithm reported as quantitative scores for fibrosis, steatosis and nonalcoholic steatohepatitis (NASH) 0004M Scoliosis, DNA analysis of 53 single nucleotide polymorphisms (SNPs), using saliva, prognostic algorithm reported as a risk score 0006M Oncology (hepatic), mrna expression levels of 161 genes, utilizing fresh hepatocellular carcinoma tumor tissue, with alpha-fetoprotein level, algorithm reported as a risk classifier Oncology (gastrointestinal neuroendocrine tumors), 0007M real-time PCR expression analysis of 51 genes, utilizing whole peripheral blood, algorithm reported as a nomogram of tumor disease index 0008M Oncology (breast), mrna analysis of 58 genes using hybrid capture, on formalin-fixed paraffin-embedded (FFPE) tissue, prognostic algorithm reported as a risk score 0009M Fetal aneuploidy (trisomy 21, and 18) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy 0010M Oncology (High-Grade Prostate Cancer), biochemical assay of four proteins (Total PSA, Free PSA, Intact PSA and human kallikrein 2 [hk2]) plus patient age, units/365 days Limit of 25 units/365 days Limit of 25 units/365 days Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered PG0125 DNA-Based Testing for Adolescent Idiopathic Scoliosis (AIS) Non-covered Non-covered Non-covered Non-covered Non-covered Non-covered PG0301 Genetic Expression Assays for Breast Cancer Prognosis PG0287 Cell-Free DNA Tests For Fetal Aneuploidy Non-covered Non-covered Non-covered
- 36 - digital rectal examination status, and no history of positive prostate biopsy, utilizing plasma, prognostic algorithm reported as a probability score HCPCS CODE G0452 Molecular pathology procedure; physician interpretation and report TAWG REVIEW DATES: 02/26/2016, 03/25/2016, 04/22/2016 REVISION HISTORY EXPLANATION 01/01/13: Updated 07/08/13: Per Medical Director Review, genetic subcommittee, the following genetic codes will not require a prior authorization; 81206-81208, 81210, 81220-81223, 81240-81245, 81250-81251, 81255-81256, 81261-81268, 81270, 81275, 81291, 81310, 81315-81316, 81340-81342, 81350, 81355, 81378-81383. 12/31/13: Per 2014 new code review, updated the configuration code sets to include procedures G0452 and 81287 to require prior authorization, and procedures 81504 and 81507 to be denied as non-covered. 05/13/14: Added codes 81161, 84999, 85999, 86849, 87999, 88199, 88299, 88380, 88381, 88399, 89398. Removed code S3870. Changed title of medical policy from Genetic and Experimental Laboratory Services to Genetic Testing. Policy reviewed and updated to reflect most current clinical evidence per Medical Policy Steering Committee. 01/13/15: Added reference to PG0296 Comparative Genomic Hybridization (CGH) for codes 81228 & 81229 per Medical Policy Steering Committee. 06/09/15: Added code effective 1/1/15: 81246, 81288, 81313, 81410, 81411, 81415-81417, 81420, 81425-81427, 81430, 81431, 81435, 81436, 81440, 81445, 81450, 81455, 81460, 81465, 81470, 81471, 81519. Updated descriptions for revised codes effective 1/1/15: 81402-81405. Policy reviewed and updated to reflect most current clinical evidence per Medical Policy Steering Committee. 10/26/15: For multianalyte assay with algorithmic analyses code 81519 refer to PG0301 Genetic Expression Assays for Breast Cancer Prognosis for coverage determination. 02/26/16: Added effective 1/1/16 new codes 81162, 81432, 81433, 81434 that require prior authorization; 81170, 81218, 81219, 81272, 81273, 81276, 81311, 81314, 81412, 81437, 81438, 81442, 81528, 81545, 81595 that do not require prior authorization; and 81490, 81493, 81525, 81535, 81536, 81538, 81540 that are non-covered. Updated effective 1/1/16 revised codes 81210, 81275, 81355, 81435, 81436, 81445, 81450, & 81455. Added codes 88230-88299, and 0001M-0010M. Code 88271 has a limit of 25 units per 365 days. Removed codes 88380 & 88381. Policy reviewed and updated to reflect most current clinical evidence per TAWG. 03/25/16: Coverage changes made per CMS guidelines: Non-covered for all product lines - 81161, 81507, 0009M; Non-covered for, and covered with prior authorization for - 81200. 81205, 81209, 81224, 81252, 81253, 81254, 81257, 81260, 81290, 81324, 81325, 81326, 81330, 81331, 81410, 81411, 81412, 81415, 81416, 81417, 81425, 81426, 81427, 81430, 81431, 81433, 81434, 81438, 81440, 81442, 81460, 81465, 81470, 81471; Covered with prior authorization for, and Non-covered for - 81490, 81504, 81525, 81540; Covered with prior authorization for and Noncovered for, 81493. Policy reviewed and updated to reflect most current clinical evidence per TAWG. 4/22/16: Codes 81242, 81251, 81302, 81303, 81304 are covered with prior authorization for, & and are non-covered for per CMS guidelines. Added specific non-covered genes/gene components determination for 81400-81408, & 81479 per CMS guidelines as non-covered for all product lines. Added myrisk test (81479) as non-covered for all product lines per CMS guidelines. Added reference to new policies: PG0355 Genetic Testing for Hereditary Thrombophilia (81240, 81241, 81291), PG0357 Gene Expression Profiling for Colorectal Cancer (81525), PG0360 Genetic Testing for FMR1 Mutations Including Fragile X Syndrome (81243, 81244), PG0363 CORUS CAD (81493), PG0364 Cancer Type ID (81540), & PG0368 GeneSight Assay for Refractory Depression (81479). Policy reviewed and updated to reflect most current clinical evidence per TAWG. REFERENCES/RESOURCES Centers for Medicare and Medicaid Services, CMS Manual System and other CMS publications and services Ohio Department of Medicaid http://jfs.ohio.gov/ American Medical Association, Current Procedural Terminology (CPT ) and associated publications and services Centers for Medicare and Medicaid Services, Healthcare Common Procedure Coding System, HCPCS Release and Code Sets
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