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Lab Management Guidelines v2.0.2019
Hereditary Cancer Syndrome Multigene Panels
MOL.TS.182.Av2.0.2019
Introduction
Hereditary cancer syndrome multigene panel testing is addressed by this guideline.
Procedures addressed
The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements.
Procedures addressed by this guideline
Procedure codes
APC Sequencing 81201
APC Deletion/Duplication Analysis 81203
ATM Sequencing 81408
BRCA1/2 Sequencing 81163
BRCA1/2 Deletion/Duplication Analysis 81164
BRCA1 Sequencing 81165
BRCA1 Deletion/Duplication Analysis 81166
BRCA2 Sequencing 81216
BRCA2 Deletion/Duplication Analysis 81167
Chromosomal Microarray [BAC], Constitutional
81228
Chromosomal Microarray [SNP], Constitutional
81229
MLH1 Sequencing 81292
MLH1 Deletion/Duplication Analysis 81294
MSH2 Sequencing 81295
MSH2 Deletion/Duplication Analysis 81297
MSH6 Sequencing 81298
MSH6 Deletion/Duplication Analysis 81300
PMS2 Sequencing 81317
PMS2 Deletion/Duplication Analysis 81319
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Lab Management Guidelines v2.0.2019
Procedures addressed by this guideline
Procedure codes
PTEN Sequencing 81321
PTEN Deletion/Duplication Analysis 81323
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 10 genes, always including BRCA1, BRCA2,CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53
81432
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
81433
Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); genomic sequence analysis panel, must include sequencing of at least 10 genes, including APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, and STK11
81435
Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); duplication/deletion analysis panel, must include analysis of at least 5 genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11
81436
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
81437
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Lab Management Guidelines v2.0.2019
Procedures addressed by this guideline
Procedure codes
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
81438
BreastNext, Ambry Genetics, Ambry Genetics
0102U
CancerNext, Ambry Genetics, Ambry Genetics
0104U
ColoNext, Ambry Genetics, Ambry Genetics
0101U
OvaNext, Ambry Genetics, Ambry Genetics
0103U
Miscellaneous hereditary cancer syndrome gene tests
81400
Miscellaneous hereditary cancer syndrome gene tests
81401
Miscellaneous hereditary cancer syndrome gene tests
81402
Miscellaneous hereditary cancer syndrome gene tests
81403
Miscellaneous hereditary cancer syndrome gene tests
81404
Miscellaneous hereditary cancer syndrome gene tests
81405
Miscellaneous hereditary cancer syndrome gene tests
81406
Miscellaneous hereditary cancer syndrome gene tests
81407
Miscellaneous hereditary cancer syndrome gene tests
81408
Miscellaneous hereditary cancer syndrome gene tests
81479
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Lab Management Guidelines v2.0.2019
What are hereditary cancer syndromes
Definition
A hereditary cancer syndrome is when a mutation in a single gene causes a significantly increased risk for certain cancers. Hereditary cancer syndromes are usually characterized by a pattern of specific cancer types occurring together in the same family, younger ages of cancer diagnosis than usual, or other co-existing non-cancer conditions.
Prevalence
Most cancer is sporadic and believed to be caused by a mix of behavioral or lifestyle, environmental, and inherited risk factors. However, about 5-10% of cancers are believed to have a major inherited component.1
Hereditary cancer syndromes
There are at least 50 hereditary cancer syndromes.1 This table lists some of the most common along with associated cancers.2
Syndrome Associated cancers
Hereditary breast and ovarian cancer syndrome (HBOC)
• breast
• ovarian, fallopian tube, or primary peritoneal cancer
• pancreatic
• prostate
Lynch syndrome • colorectal
• endometrial
• small bowel
• stomach
• ovarian
• pancreatic
• ureteral and renal pelvis
• biliary tract
• brain
• sebaceous adenoma
• keratoacanthoma tumors
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Syndrome Associated cancers
Familial adenomatous polyposis • colorectal and other gastrointestinal cancers
• gastrointestinal tract polyps such as adenomas and fundic gland
• osteomas
• desmoids
• thyroid cancer
• hepatoblastoma
MUTYH-associated polyposis • colorectal and other gastrointestinal cancers
• adenomas
• hyperplastic polyps
Cowden syndrome • benign and malignant tumors of the breast, endometrium, and thyroid
• cancer and polyps (hamartomas) in the colon and rectum
Li Fraumeni syndrome • soft tissue sarcoma
• osteosarcoma
• leukemia
• melanoma
• breast
• pancreas
• colon
• adrenal cortex
• stomach
• esophagus
• brain
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Lab Management Guidelines v2.0.2019
Syndrome Associated cancers
Peutz-Jeghers syndrome • polyps (hamartomas) in the stomach
• small intestine and colon
• pancreas
• lung
• breast
• uterine
• ovarian
Overlapping clinical findings
Many hereditary cancer syndromes can include the same types of cancer and therefore have overlapping clinical findings. For example, breast cancer is a feature of HBOC caused by BRCA mutations, Li Fraumeni syndrome, Cowden syndrome, and others. Sometimes, the pattern of cancers in the family or pathognomonic features makes the underlying syndrome clear. However, in many cases it can be difficult to reliably diagnose hereditary cancer syndromes based on clinical and family history alone.
Test information
Introduction
Testing for hereditary cancer syndromes may include multigene panel testing.
Sanger Sequencing
Until recently, most sequencing tests used the Sanger sequencing methodology that was originally developed in the 1970s. Sanger sequencing is labor intensive and did not lend itself to high-throughput applications.
Next-generation sequencing (NGS)
NGS, which is also sometimes called massively parallel sequencing, has been developing since about 2005 to allow larger scale and more efficient gene sequencing. NGS relies on sequencing many copies of small pieces of DNA simultaneously and using bioinformatics to assemble the sequence.
The efficiency of NGS has led to an increasing number of large, multi-gene testing panels. NGS panels that test several genes at once are particularly well-suited to conditions caused by more than one gene or where there is considerable clinical overlap between conditions making it difficult to reliably narrow down likely causes. As
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Lab Management Guidelines v2.0.2019
a result, several laboratories have begun to combine genes involved in causing various hereditary cancer syndromes, which often have both of those characteristics.
Detection rate of NGS
NGS may not perform as well as Sanger sequencing in some applications. Results may also be obtained that cannot be adequately interpreted based on the current knowledgebase.
o When a sequence variation is identified that has not been previously characterized or shown to cause the disorder in question, it is called a variant of uncertain significance (VUS). VUSs are relatively common findings when sequencing large amounts of DNA with NGS.
o Under certain circumstances, technologies used in multi-gene testing may fail to identify mutations that might be identifiable through single-gene testing. If high clinical suspicion remains for a particular syndrome after negative multi-gene test results, consultation with the testing lab, additional targeted genetic testing, or both may be warranted.
Hereditary cancer syndrome multi-gene panels
Hereditary cancer syndrome multi-gene panels include a wide variety of genes and may be focused on the genetic causes of a particular cancer type or broad detection of common hereditary cancer syndromes.
Multi-gene tests vary in technical specifications. For example, different labs may have different depth of coverage, extent of Intron/Exon Boundary analysis, or methodology of large Deletion/Duplication Analysis.
Because genes can be easily added or removed from multi-gene tests over time by a given lab, medical records must document
the genes included in the specific multi-gene test used from each patient, and
the labs that performed the panels.
Moderate risk genes
Panels may also include genes believed to be associated with cancer, but with a more modest impact on risk than recognized hereditary cancer syndromes. Results for such genes are of less clear value because there often are not clear management recommendation for mutation-positive individuals.
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Guidelines and evidence
Introduction
This section includes relevant guidelines and evidence pertaining to herditary cancer syndrome panel testing.
National Comprehensive Cancer Network (NCCN)
The National Comprehensive Cancer Network (NCCN) makes the following general recommendations for using multi-gene panels in evaluating risk for breast and ovarian cancer and now includes this option in some management algorithms:3 ,4
“Because of their complexity, multi-gene testing is ideally offered in the context of professional genetic expertise for pre- and post-test counseling.”
“Testing of an individual without a cancer diagnosis should only be considered when an appropriate affected family member is unavailable for testing.”
“When more than one gene can explain an inherited cancer syndrome, then multi-gene testing may be more efficient and/or cost effective. As commercially available tests differ in the specific genes analyzed (as well as classification of variants and many other factors), choosing the specific laboratory and test panel is important. Multi-gene testing can include ‘intermediate’ penetrant (moderate-risk) genes. For many of these genes, there is limited data on the degree of cancer risk and there are no clear guidelines on risk management for carriers of mutations. Not all genes included on available multi-gene tests are necessarily clinically actionable.” If a moderate risk gene mutation is identified, “gene carriers should be encouraged to participate in clinical trials or genetic registries.”
“Mutations in many breast cancer susceptibility genes involved in DNA repair may be associated with the rare autosomal recessive condition, Fanconi anemia.” Therefore, multi-gene testing may unexpectedly reveal that an individual and their family are at an increased risk for this condition.
“There is an increased likelihood of finding variants of unknown significance when testing for mutations in multiple genes.”
American College of Medical Genetics
The American College of Medical Genetics has a policy statement that offers general guidance on the clinical application of large-scale sequencing focusing primarily on whole exome and whole genome testing. However, some of the recommendations regarding counseling around unexpected results, variants of unknown significance, and minimum requirements for reporting apply to many NGS applications.5
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Criteria
Introduction
Requests for hereditary cancer syndrome panel testing are reviewed using these criteria.
Criteria
This guideline applies to all hereditary cancer syndrome panels, which are defined as assays that simultaneously test for more than one hereditary cancer syndrome. This guideline does not apply when testing more than one gene related to the same hereditary cancer syndrome (e.g., Lynch syndrome).
Medical necessity coverage generally relies on criteria established for testing individual hereditary cancer syndromes. See the Coverage Guidance table for examples of genes known to be included in currently available hereditary cancer syndrome multi-gene panels with coverage guidance. This is not intended to be a complete list of available genes as these panels are evolving rapidly.
However, this guideline takes into account the efficiency gains from simultaneously testing multiple candidate genes. Therefore, coverage requirements rely to some degree on how the panel will be billed. Panels may be billed in a variety of ways:
Gene sequencing portion:
o A separate CPT code for sequencing each gene studied or a subset (e.g., 81201, 81294, 81297, etc.)
o A single CPT code developed specifically for a particular type of panel (e.g., 81432, 81435, 81437)
o A single unlisted CPT code (e.g., 81479)
Deletion/duplication analysis portion:
o A separate CPT code for deletion/duplication analysis of each gene studied or a subset (e.g., 81203, 81292, 81294, 81404, 81479, etc.)
o A single CPT code developed specifically for a particular type of panel (e.g., 81433, 81436, 81438)
o Microarray analysis (e.g., 81228 or 81229)
o Part of a single unlisted CPT code for the sequencing and deletion/duplication portions of the panel (e.g., 81479)
Hereditary cancer syndrome multi-gene panels will be reimbursed when the following criteria are met:
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Panel will be billed with separate procedure codes for each gene analyzed (however, please note that the billed amount should not exceed the list price of the test).
o The medical necessity of each billed procedure will be assessed independently. See the Coverage Guidance table for gene-specific policy guidance.
When a patient meets medical necessity criteria for any hereditary cancer syndrome gene(s) included in a multi-gene panel, genetic testing for the clinically indicated gene(s) will be reimbursed. This includes the sequencing and deletion/duplication† components.
Any genes that are included in a multi-gene panel but do NOT meet medical necessity criteria will NOT be reimbursed. It will be at the laboratory, provider, and patient’s discretion to determine if a multi-gene panel remains the preferred testing option.
o Sequencing and/or deletion/duplication analysis† of any hereditary cancer syndrome gene(s) should only be performed once per lifetime and will therefore only be reimbursed once per lifetime. If gene testing was previously performed, and is now being included in a panel, such testing will not be separately reimbursable regardless of whether clinical coverage criteria are met, OR
Panel will be billed with a single procedure code to represent all genes being sequenced, with or without another single procedure code representing the deletion/duplication analysis† portion. Code(s) may be specific to that panel or an unlisted code, such as 81479.
o No previous hereditary cancer syndrome testing has been performed
Medical necessity must be established for at least two conditions included in the panel (e.g., hereditary breast and ovarian cancer and Li Fraumeni syndrome). Note that this is two conditions and not two genes (i.e., meeting criteria for only Lynch syndrome, which is caused by mutations in at least 5 genes, would not fulfill criteria alone).
Although not a complete list, the following are considered separate conditions: Hereditary breast cancer - this includes both BRCA1/2 and PALB2.
Lynch syndrome
Li-Fraumeni
Familial adenomatous polyposis
Cowden syndrome
o Testing for one condition was performed and billed separately. A multi-gene panel is now being considered as a reflex and will be billed at a rate comparable to single syndrome pricing (e.g., myRisk update).
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Medical necessity must be established for at least one condition included in the panel in addition to the already tested condition (e.g., hereditary breast and ovarian cancer was already performed, but Lynch syndrome criteria are also met).
Note that if BRCA1/2 testing was already performed and PALB2 criteria are now met, PALB2 testing alone would be reimbursable and not a reflex panel test (e.g. myRisk Update).
† When deletion/duplication testing is not part of a single panel CPT code being billed, deletion/duplication testing should be billed in only one of the following ways:
A separate CPT code for deletion/duplication analysis of each individual gene (may include non-specific molecular pathology tier 2 codes or unlisted code 81479), or
A single CPT code specific to the performed deletion/duplication analysis panel, or
A single microarray procedure
Procedure codes representing multiple methods for deletion/duplication testing will not be reimbursable for the same panel (e.g., test-specific deletion/duplication procedure codes and microarray will not both be reimbursable for the same panel).
Coverage guidance
The following table describes coverage guidance for genes associated with hereditary cancer syndromes.
Coverage Guidance for Genes Included in Hereditary Cancer Syndrome Multi-Gene Panels
Condition Test Name CPT Claim Code Reimbursement
Birt-Hogg-Dube syndrome
FLCN Sequencing
81479 FLCNSEQ MOL.CU.109
FLCN Deletion/Duplication Analysis
81479 FLCNDD MOL.CU.109
Cowden syndrome, PTEN hamartoma tumor syndrome
PTEN Deletion/Duplication Analysis
81323 NONE MOL.TS.223
PTEN Sequencing
81321 NONE MOL.TS.223
Cutaneous malignant melanoma
CDK4 Deletion/Duplication Analysis
81479 CDK4DD MOL.TS.170
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Condition Test Name CPT Claim Code Reimbursement
CDK4 Exon 2 Sequencing
81479 CDK4EX2 MOL.TS.170
CDKN2A Deletion/Duplication Analysis
81479 CDKN2A MOL.TS.170
CDKN2A Sequencing
81404 CDKN2A MOL.TS.170
Familial adenomatous polyposis
APC Deletion/Duplication Analysis
81203 NONE MOL.TS.168
APC Sequencing
81201 NONE MOL.TS.168
Familial breast and/or ovarian cancer
AKT1 Deletion/Duplication Analysis
81479 AKT1DD Not reimbursed
AKT1 Sequencing
81479 AKT1SEQ Not reimbursed
ATM Deletion/Duplication Analysis
81479 ATM Not reimbursed
ATM Sequencing
81408 ATM Not reimbursed
BARD1 Deletion/Duplication Analysis
81479 BARD1DD Not reimbursed
BARD1 Sequencing
81479 BARD1SEQ Not reimbursed
BRIP1 Deletion/Duplication Analysis
81479 BRIP1DD Not reimbursed
BRIP1 Sequencing
81479 BRIP1 Not reimbursed
CHEK2 Deletion/Duplication Analysis
81479 CHEK2DD Not reimbursed
CHEK2 Sequencing
81479 CHEK2SEQ Not reimbursed
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Condition Test Name CPT Claim Code Reimbursement
FAM175A Deletion/Duplication Analysis
81479 FAM175ADD Not reimbursed
FAM175A Sequencing
81479 FAM175ASEQ Not reimbursed
GEN1 Deletion/Duplication Analysis
81479 GEN1DD Not reimbursed
GEN1 Sequencing
81479 GEN1SEQ Not reimbursed
MRE11A Deletion/Duplication Analysis
81479 MRE11ADD Not reimbursed
MRE11A Sequencing
81479 MRE11ASEQ Not reimbursed
NBN Deletion/Duplication Analysis
81479 NBNDD Not reimbursed
NBN Sequencing
81479 NBNSEQ Not reimbursed
RAD50 Deletion/Duplication Analysis
81479 RAD50DD Not reimbursed
RAD50 Sequencing
81479 RAD50SEQ Not reimbursed
RAD51 Deletion/Duplication Analysis
81479 RAD51DD Not reimbursed
RAD51 Sequencing
81479 RAD51SEQ Not reimbursed
RAD51C Deletion/Duplication Analysis
81479 RAD51CDD Not reimbursed
RAD51C Sequencing
81479 RAD51CSEQ Not reimbursed
RAD51D Deletion/Duplication Analysis
81479 RAD51DDD Not reimbursed
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Condition Test Name CPT Claim Code Reimbursement
RAD51D Sequencing
81479 RAD51DSEQ Not reimbursed
SMARCA4 Deletion/Duplication Analysis
81479 SMARCA4DD Not reimbursed
SMARCA4 Sequencing
81479 SMARCA4SEQ Not reimbursed
XRCC2 Deletion/Duplication Analysis
81479 XRCC2DD Not reimbursed
XRCC2 Sequencing
81479 XRCC2SEQ Not reimbursed
XRCC3 Deletion/Duplication Analysis
81479 XRCC3DD Not reimbursed
XRCC3 Sequencing
81479 XRCC3SEQ Not reimbursed
Familial colorectal cancer
AXIN2 Deletion/Duplication Analysis
81479 AXIN2DD Not reimbursed
AXIN2 Sequencing
81479 AXIN2SEQ Not reimbursed
GALNT12 Deletion/Duplication Analysis
81479 GALNT12DD Not reimbursed
GALNT12 Sequencing
81479 GALNT12SEQ Not reimbursed
MLH3 Deletion/Duplication Analysis
81479 MLH3DD Not reimbursed
MLH3 Sequencing
81479 MLH3SEQ Not reimbursed
POLE Sequencing
81479 POLESEQ Not reimbursed
POLD1 Sequencing
81479 POLD1SEQ Not reimbursed
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Condition Test Name CPT Claim Code Reimbursement
Familial cutaneous telangiectasia and cancer syndrome
ATR Deletion/Duplication Analysis
81479 ATRDD Not reimbursed
ATR Sequencing
81479 ATRSEQ Not reimbursed
Familial pancreatic cancer
PRSS1 Deletion/Duplication Analysis
81479 PRSS1 Not reimbursed
PRSS1 Sequencing
81404 PRSS1 Not reimbursed
Familial prostate cancer
HOXB13 Deletion/Duplication Analysis
81479 HOXB13DD Not reimbursed
HOXB13 Sequencing
81479 HOXB13SEQ Not reimbursed
Familial renal cell carcinoma
MITF Sequencing
81479 MITFSEQ Not reimbursed
MITF Deletion/Duplication Analysis
81479 MITFDD Not reimbursed
Familial Wilms tumor
WT1 Sequencing
81405 WT1 MOL.CU.109
Hereditary breast and ovarian cancer
BRCA1/2 Sequencing
81163 NONE MOL.TS.238
BRCA1/2 Deletion/Duplication Analysis
81164 NONE MOL.TS.238
BRCA1 Sequencing
81165 NONE MOL.TS.238
BRCA1 Deletion/Duplication Analysis
81166 NONE MOL.TS.238
BRCA2 Sequencing
81216 NONE MOL.TS.238
BRCA2 Deletion/Duplication Analysis
81167 NONE MOL.TS.238
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Condition Test Name CPT Claim Code Reimbursement
Hereditary breast and pancreatic cancer
PALB2 Sequencing
81406 PALB2 MOL.TS.251
Hereditary diffuse gastric cancer
CDH1 Sequencing
81406 CDH1 MOL.CU.109
CTNNA1 Deletion/Duplication Analysis
81479 CTNNA1DD MOL.CU.109
CTNNA1 Sequencing
81479 CTNNA1SEQ MOL.CU.109
Hereditary leiomyomatosis with renal cell cancer
FH Sequencing 81405 FH MOL.CU.109
Hereditary mixed polyposis syndrome
GREM1 Deletion/Duplication Analysis
81479 GREM1DD Not reimbursed
GREM1 Sequencing
81479 GREM1SEQ Not reimbursed
Hereditary mixed polyposis syndrome, Juvenile polyposis syndrome
BMPR1A Deletion/Duplication Analysis
81479 BMPR1ADD MOL.CU.109
BMPR1A Sequencing
81479 BMPR1ASEQ MOL.CU.109
Hereditary papillary renal cell carcinoma
MET Sequencing
81479 METSEQ MOL.CU.109
MET Deletion/Duplication Analysis
81479 METDD MOL.CU.109
Hereditary paraganglioma-pheochromocytoma syndromes
SDHA Sequencing
81406 SDHA MOL.CU.109
SDHB Deletion/Duplication Analysis
81479 SDHB MOL.CU.109
SDHB Sequencing
81405 SDHB MOL.CU.109
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Condition Test Name CPT Claim Code Reimbursement
SDHC Deletion/Duplication Analysis
81404 SDHC MOL.CU.109
SDHC Sequencing
81405 SDHC MOL.CU.109
SDHD Deletion/Duplication Analysis
81479 SDHD MOL.CU.109
SDHD Sequencing
81404 SDHD MOL.CU.109
MAX Sequencing
81479 MAXSEQ MOL.CU.109
MAX Deletion/Duplication Analysis
81479 MAXDD MOL.CU.109
SDHAF2 Sequencing
81479 SDHAF2SEQ MOL.CU.109
SDHAF2 Deletion/Duplication Analysis
81479 SDHAF2DD MOL.CU.109
TMEM127 Sequencing
81479 TMEM127SEQ MOL.CU.109
TMEM127 Deletion/Duplication Analysis
81479 TMEM127DD MOL.CU.109
Juvenile polyposis syndrome
SMAD4 Deletion/Duplication Analysis
81405 SMAD4 MOL.CU.109
SMAD4 Sequencing
81406 SMAD4 MOL.CU.109
Li-Fraumeni syndrome
TP53 Deletion/Duplication Analysis
81479 TP53 MOL.TS.193
TP53 Sequencing
81405 TP53 MOL.TS.193
TP53 Targeted Sequencing
81404 TP53 MOL.TS.193
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Condition Test Name CPT Claim Code Reimbursement
Lynch syndrome
EPCAM Deletion/Duplication Analysis
81403 EPCAM MOL.TS.197
MLH1 Deletion/Duplication Analysis
81294 NONE MOL.TS.197
MLH1 Sequencing
81292 NONE MOL.TS.197
MSH2 Deletion/Duplication Analysis
81297 NONE MOL.TS.197
MSH2 Sequencing
81295 NONE MOL.TS.197
MSH6 Deletion/Duplication Analysis
81300 NONE MOL.TS.197
MSH6 Sequencing
81298 NONE MOL.TS.197
PMS2 Deletion/Duplication Analysis
81319 NONE MOL.TS.197
PMS2 Sequencing
81317 NONE MOL.TS.197
Multiple endocrine neoplasia type 1
MEN1 Deletion/Duplication Analysis
81404 MEN1 MOL.CU.109
MEN1 Sequencing
81405 MEN1 MOL.CU.109
Multiple endocrine neoplasia, type 2A
RET Sequencing
81406 RET MOL.CU.109
RET Targeted Sequencing
81405 RET MOL.CU.109
MUTYH-associated polyposis
MUTYH Deletion/Duplication Analysis
81479 MUTYH MOL.TS.206
MUTYH Sequencing
81406 MUTYH MOL.TS.206
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Condition Test Name CPT Claim Code Reimbursement
Neurofibromatosis type 1
NF1 Deletion/Duplication Analysis
81479 NF1 MOL.CU.109
NF1 Sequencing
81408 NF1 MOL.CU.109
Peutz-Jeghers syndrome
STK11 Deletion/Duplication Analysis
81404 STK11 MOL.TS.216
STK11 Sequencing
81405 STK11 MOL.TS.216
Tumor predisposition syndrome
BAP1 Deletion/Duplication Analysis
81479 BAP1DD Not reimbursed
BAP1 Sequencing
81479 BAP1SEQ Not reimbursed
Unknown phenotype
CHEK1 Deletion/Duplication Analysis
81479 CHEK1DD Not reimbursed
CHEK1 Sequencing
81479 CHEK1SEQ Not reimbursed
RAD51B Deletion/Duplication Analysis
81479 RAD51BDD Not reimbursed
RAD51B Sequencing
81479 RAD51BSEQ Not reimbursed
von Hippel-Lindau syndrome
VHL Deletion/Duplication Analysis
81403 VHL MOL.TS.233
VHL Sequencing
81404 VHL MOL.TS.233
Not reimbursed
Gene testing is not reimbursed strictly for hereditary cancer indications. In general, this category applies to genes that have only a low to moderate impact on cancer risk (compared to high penetrance cancer syndrome-causing genes) and no clear management guidelines associated with identifying a mutation.
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Lab Management Guidelines v2.0.2019
References
Introduction
These references are cited in this guideline.
1. National Cancer Institute. Fact Sheets: Genetic Testing for Hereditary Cancer Syndromes (Reviewed April 11, 2013). Available at: http://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet
2. Hampel H et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Gen et Med. 2015; 17(1):70-87. Available at: https://www.acmg.net/docs/gim2014147a.pdf
3. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2018. Available at: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
4. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2016. Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
5. ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med. 2012 Aug;14(8):759-61.
© eviCore healthcare. All Rights Reserved. 20 of 20400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com
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