Hereditary cancer syndrome panels

About 1 in 3 people in the United States will develop cancer during their lifetime,1 so it’s not uncommon to have many cancers in the same family. Less often, cancers in a family are strongly linked to an inherited gene mutation that is part of a hereditary cancer syndrome. Individuals who have a mutation in a cancer predisposition gene have a higher risk for developing certain types of cancer, including: tuberous sclerosis complex (TSC), Lynch syndrome, familial adenomatous polyposis (FAP), and others.

Certain things make it more likely that cancers in a family are caused by a hereditary cancer syndrome, such as:

  • Many cases of the same type of cancer (especially if it is an uncommon or rare type of cancer)
  • Cancers occurring at younger ages than usual (typically cancer in someone younger than 50 years old)
  • More than 1 type of cancer in a single person (like a person or an individual with both breast and ovarian cancer)
  • Cancers occurring in both of a pair of organs (like both eyes, both kidneys, or both breasts)
  • Cancer occurring in the sex not usually affected (like breast cancer in a man)
  • Cancer occurring in multiple generations (like in a grandfather, father, and son)
Test code Test name Description
Breast cancer syndrome
91863 BRCA Panel (BRCA1, BRCA2) Detects variants in the BRCA1 and BRCA2 genes which are the most common causes of hereditary breast and ovarian cancers
91864 BRCA Ashkenazi Jewish Screen Detects 3 variants within BRCA1 and BRCA2 that are commonly found in the Ashkenazi Jewish population
92140 BRCA Ashkenazi Jewish Screen w/Reflex to BRCA Panel (BRCA1, BRCA2) Ashkenazi Jewish screen; if negative reflex to BRCA Panel-BRCA1 and BRCA2
91866 BRCA1 and BRCA2 Deletion and Duplication Detects large deletion/duplication variants in the BRCA1 and BRCA2 genes which are not detectable by DNA sequencing
Lynch syndrome
91461 Lynch Syndrome Panel (5 genes) Detects pathogenic variants in the MLH1, MSH2, MSH6, PMS2, and EPCAM (del/dup only) genes
Other cancer risk
38651 Nevoid Basal Cell Carcinoma (NBCCS) (Gorlin) Syndrome Panel (PTCH1, SUFU) Detects variants in PTCH1 and SUFU
38661 Tuberous Sclerosis Complex Panel (TSC1, TSC2) Detects variants in TSC1 and TSC2
94053 Juvenile Polyposis Panel (BMPR1A, SMAD4) Detects pathogenic and VUS variants in the BMPR1A and SMAD4 genes

Reference:
1. Family Cancer Syndromes. American Cancer Society. Last revised August 5, 2020. Accessed August 10, 2020. https://www.cancer.org/cancer/cancer-causes/genetics/family-cancer-syndromes.html

Breast cancer syndrome
BRCA Panel (BRCA1, BRCA2)
Test code: 91863

Detects variants in the BRCA1 and BRCA2 genes which are the most common causes of hereditary breast and ovarian cancers

BRCA Ashkenazi Jewish Screen
Test code: 91864

Detects 3 variants within BRCA1 and BRCA2 that are commonly found in the Ashkenazi Jewish population

BRCA Ashkenazi Jewish Screen w/Reflex to BRCA Panel (BRCA1, BRCA2)
Test code: 92140

Ashkenazi Jewish screen; if negative reflex to BRCA Panel-BRCA1 and BRCA2

BRCA1 and BRCA2 Deletion and Duplication
Test code: 91866

Detects large deletion/duplication variants in the BRCA1 and BRCA2 genes which are not detectable by DNA sequencing

Lynch syndrome
Lynch Syndrome Panel (5 genes)
Test code: 91461

Detects pathogenic variants in the MLH1, MSH2, MSH6, PMS2, and EPCAM (del/dup only) genes

Other cancer risk
Nevoid Basal Cell Carcinoma (NBCCS) (Gorlin) Syndrome Panel (PTCH1, SUFU)
Test code: 38651

Detects variants in PTCH1 and SUFU

Tuberous Sclerosis Complex Panel (TSC1, TSC2)
Test code: 38661

Detects variants in TSC1 and TSC2

Juvenile Polyposis Panel (BMPR1A, SMAD4)
Test code: 94053

Detects pathogenic and VUS variants in the BMPR1A and SMAD4 genes

Reference:
1. Family Cancer Syndromes. American Cancer Society. Last revised August 5, 2020. Accessed August 10, 2020. https://www.cancer.org/cancer/cancer-causes/genetics/family-cancer-syndromes.html

Simplified ordering process

Easily find detailed information for each test in the Quest Diagnostics test directory and order your Hereditary Cancer test collection kits by completing this online form. To complete the online order form, you’ll need your Quest Diagnostics Account Number.

If you aren’t sure if you have an account, call us at 1.866.MY.QUEST (1.866.697.8378) and we’ll be happy to look it up. We can quickly create an account for you today, so you’ll have everything you need to ensure seamless service—from kit delivery, to speedy order processing, to result delivery—including requisition forms, customer service contact information, and scheduled pick-up service when you need it.

Once your account is set up, ask the Client Services Representative to send your Quest Advanced Hereditary Cancer starter kits to you or complete the online form.

As always, for clinical consultation on test selection and results interpretation, you can call 1.866.GENE.INFO (1.866.436.3463).

Quanum® Lab Services Manager


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