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Hereditary Cancer Test Selection Guide

Hereditary Cancer Test Selection Guide

Test Guide

Hereditary Cancer Test Selection Guide

 

Quest Diagnostics® offers multiple tests for detecting mutations associated with hereditary cancer. This Test Guide is intended to help the clinician select the most appropriate test for each patient. Additional assistance in test selection is available by calling Quest Genomics Client Services at 866.GENE.INFO (1.866.436.3463).

Genes and Related
Lifetime Risk of Cancer

Test Code Test Name Clinical Application
BRCA-related Breast and Ovarian Cancer Syndrome
91863 BRCAvantage®, Comprehensivea

Includes detection of point mutations, deletions, and duplications in the BRCA1 and BRCA2 genes.

  • Assess risk for BRCA-related breast and/or ovarian cancer syndrome when there is no known familial mutation
  • Second-tier test to assess risk in Ashkenazi Jewish people who have a negative BRCAvantage, Ashkenazi Jewish Screen

91864 BRCAvantage®, Ashkenazi Jewish Screena

Includes detection of the 3 founder mutations (c.68_69delAG [185delAG, 187delAG], c.5266dupC [5382insC, 5385insC], and c.5946delT [6174delT]).

  • First-tier test to assess risk for BRCA-related breast and/or ovarian cancer syndrome in Ashkenazi Jewish people with or without a family history of an ethnicity-associated mutation
92140 BRCAvantage®, Ashkenazi Jewish Screen w/Reflex BRCAvantage, Comprehensivea

Includes test code 91864; test code 91863 added with additional charge and CPT code when none of the 3 founder mutations are detected.

  • First- and second-tier tests combined to assess risk for BRCA-related breast and/or ovarian cancer syndrome in Ashkenazi Jewish people with or without a family history of an ethnicity-associated mutation
91865 BRCAvantage®, Single Sitea

Includes detection of a familial mutation in the BRCA1 or BRCA2 gene.

  • Assess risk for BRCA-related breast and/or ovarian cancer syndrome in family members when there is a known familial BRCA1 or BRCA2 mutation
91866 BRCAvantage®, Rearrangementsa

Includes detection of deletions and duplications in the BRCA1 and BRCA2 genes.

  • Assess risk for BRCA-related breast and/or ovarian cancer syndrome in people who have a negative BRCA1/BRCA2 sequencing test and no, or limited, deletion/duplication study

Lynch Syndrome

Tissue Testing

16767 BRAF Mutation Analysisa
  • Rule out Lynch syndrome in people who show loss of MLH1 IHC staining on colorectal tissueb
91332 (91333) Lynch Syndrome Tumor Panel, IHC with (or without) Interpretationc

Includes MLH1 (70196 or 16967), MSH2 (70197 or 16971), MSH6 (16938 or 16252), and PMS2 (16997 or 16254) protein expression.

  • Screen for Lynch syndrome in patients with colorectal or endometrial cancer
  • Identify MMR gene(s) for mutation testing

14989(X) Microsatellite Instability (MSI), HNPCCa
  • Screen for Lynch syndrome in patients with colorectal or endometrial cancer
Whole Blood (Mutation) Testing
91461 Lynch Syndrome Panela

Includes detection of point mutations, deletions, and duplications in MLH1, MSH2, MSH6, and PMS2 genes and testing for 3ʹ-EPCAM deletion.

  • Confirm diagnosis of Lynch syndrome in patients with colorectal or endometrial cancer and MSI high/IHC normal (all MMR proteins expressed) test results
  • Assess risk of Lynch syndrome in patients with a Lynch syndrome-related tumor and no previous tumor tissue testing

  • Assess risk of Lynch syndrome in at-risk family members when familial mutation is unknown

91460 Lynch Syndrome, MLH1 Sequencing and Deletion/Duplicationa
  • Confirm diagnosis of Lynch syndrome in patients with 1) loss of MLH1 staining and negative BRAF test and/or 2) loss of PMS2 staining
91471

Lynch Syndrome, MSH2 Sequencing and Deletion/Duplication (Including EPCAM)a

  • Confirm diagnosis of Lynch syndrome in patients with 1) loss of MSH2 staining and/or 2) loss of MSH6 staining
91458 Lynch Syndrome, MSH6 Sequencing and Deletion/Duplicationa
  • Confirm diagnosis of Lynch syndrome in patients with 1) loss of MSH6 staining and/or 2) loss of MSH2 staining
91457 Lynch Syndrome, PMS2 Sequencing and Deletion/Duplicationa
  • Confirm diagnosis of Lynch syndrome in patients with 1) loss of PMS2 staining and/or 2) loss of MLH1 staining
  • Assess risk of Lynch syndrome in at-risk family members when the family mutation is known

14984 MLH1 Mutation, One Exon, HNPCCa

Includes detection of point mutations, deletions, and duplications; submission of specific family MLH1 mutation is required.

  • Assess risk of Lynch syndrome in at-risk family members when the family mutation is known
14981 MSH2 Mutation, One Exon, HNPCCa

Includes detection of point mutations, deletions, and duplications; submission of specific family MSH2 mutation is required.

  • Assess risk of Lynch syndrome in at-risk family members when the family mutation is known
14983 MSH6 Mutation, One Exon, HNPCCa

Includes detection of point mutations, deletions, and duplications; submission of specific family MSH6 mutation is required.

  • Assess risk of Lynch syndrome in at-risk family members when the family mutation is known
Other Single-gene Syndromes or Conditions
93797 APC Sequencing and Deletion/Duplicationa
  • Assess risk or confirm diagnosis of familial adenomatous polyposis (FAP) or attenuated FAP
92568

CDH1 Sequencing and Deletion/Duplicationa

  • Assess risk or confirm diagnosis of hereditary diffuse gastric cancer and/or hereditary breast cancer
92571 PALB2 Sequencing and Deletion/Duplicationa
  • Assess risk or confirm diagnosis of hereditary breast and/or pancreatic cancer
92566 PTEN Sequencing and Deletion/Duplicationa
  • Assess risk or confirm diagnosis of hamartoma tumor syndrome (Cowden syndrome)
93796 RET Sequencing and Deletion/Duplicationa

Includes evaluation of all exons in the RET gene.

  • Assess risk or confirm diagnosis of multiple endocrine neoplasia type 2 and/or familial medullary thyroid carcinoma
92565 STK11 Sequencing and Deletion/Duplicationa
  • Assess risk or confirm diagnosis of Peutz-Jeghers syndrome
92560 TP53 Sequencing and Deletion/Duplicationa
  • Assess risk or confirm diagnosis of Li-Fraumeni syndrome
Hereditary Cancer Panels for Multiple Cancer Types
93791 GIvantage Hereditary Colorectal Cancer Panela

Includes detection of point mutations, duplications, and/or deletions in 13 genes: APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53.

  • Assess risk of hereditary cancer in the colon, rectum, and other tissues
93768 MYvantage Hereditary Comprehensive Cancer Panela

Includes detection of point mutations, duplications, and/or deletions in 34 genes: APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RET, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, and VHL.

  • Assess risk of hereditary cancer in the breast, colon, endometrium, ovary, pancreas, prostate, rectum, neuroendocrine system, and other tissues

IHC, immunohistochemistry; MMR, mismatch repair.

a

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

b

In rare cases, a patient with Lynch syndrome may have a BRAF-positive result. Consider germline testing if the patient is young at disease onset or has significant family history.

c

Components of panels can be ordered individually; test codes are in parentheses.

 

This Test Guide is provided for informational purposes only and is not intended as medical advice. A physician’s test-selection decisions should be based on his/her education, clinical expertise, and assessment of the patient.

 Content reviewed 10/2016

 

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* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.