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GenetiX HBOC Testing Page

ASPiRA GenetiX Hereditary Breast and Ovarian Cancer Genetics


10-15% of Ovarian Cancers occur because of a genetic mutation that has been passed down within a family. Understanding a patients hereditary genetic risk can help to inform the management plan for patients with a positive test result, and determine if close family members (children, siblings, and/or parents) may also be at risk.

Uncovering Risk to Enhance Treatment, with a Gynecologic Focus

With a focus on women’s health, ASPiRA Labs offers both comprehensive and targeted genetic testing options for Hereditary Breast and Ovarian cancer to help guide medical management for your patient. ASPiRA GenetiX leverages whole gene sequencing technology (coding regions and adjacent intronic/splice-site regions) with >99% bases covered by at least 20x.

Red flags for hereditary cancers can include early onset of cancer before age 50, more than one primary cancer in a single person, or multiple cancers within a family.

High Quality Genetic Testing


*Expanded Panels for additional cancer types are available

Hereditary Cancer Testing Options


BRCA1 & BRCA2

Genes Tested:
BRCA1, BRCA2

Patient Considerations for Testing:
BRCA1 & BRCA2 are well studied genes that account for 5-15% of hereditary breast or ovarian cancer cases (includes BRCA2 Portuguese Mutation).

BRCA1 & BRCA2 Reflex to Targeted Breast and Ovarian 24

Genes Tested:
BRCA1, BRCA2, and if negative for Pathogenic or Likely-Pathogenic variants, reflex to Targeted Breast and Ovarian 24

Patient Considerations for Testing:
In patients without variants identified in BRCA1 & BRCA2, the genes included in the 24 gene targeted panel will be analyzed to uncover potential genetic risk.

BRCA1 & BRCA2 Reflex to Comprehensive Breast, Ovarian and Endometrial 34

Genes Tested:
BRCA1, BRCA2, and if negative for Pathogenic or Likely-Pathogenic variants, reflex to Comprehensive Breast, Ovarian and Endometrial 34

Patient Considerations for Testing:
In patients without variants identified in BRCA1 & BRCA2, the genes included in the comprehensive 34 gene panel will be analyzed to uncover potential genetic risk with additional genes associated with female reproductive cancers.

Targeted Breast & Ovarian 24 Gene Panel

Genes Tested:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER, EPCAM, MLH1, MSH2, (mono/biallelic), MSH6, MRE11A, NBN, NFI, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53

Patient Considerations for Testing:
Including BRCA1 & BRCA2, the genes in the targeted panel include HIGH to Moderate risk genes associated with hereditary breast and ovarian cancer, including syndromic associated genes with an elevated risk of HBOC (such as Lynch Syndrome). Patients with a family history of breast and/or ovarian cancer without a known family history of BRCA1 or BRCA2 mutations may benefit from this option.

Comprehensive Breast, Ovarian, and Endometrial 34 Gene Panel

Genes Tested:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1,CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, (mono/biallelic), MSH6, MUTYH, NBN, NF1, NTHL1 (mono/biallelic), PALB2, POLE, POLD1, PMS2, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, SMARCA4, STK11, TP53, WRN, XRCC2

Patient Considerations for Testing:
Including BRCA1 & BRCA2, the genes in the comprehensive panel include genes with strong associations with hereditary breast and ovarian cancer as well as newer evidence genes and some genes associated with uterine & endometrial cancer risk. Patients with a family history of breast, ovarian or endometrial cancer without a known family history of and/or ovarian cancer without a known family history of BRCA1 or BRCA2 mutations may benefit from this option.

Pre- and Post-Testing Genetic Counseling

ASPiRA LABS® offers Pre and Post Test Genetic Counseling Personalized Genetic Services.


Pre-Test Consultation

Speak with a genetic expert by phone or video once your test is ordered. We review personal and family health history, answer any questions you may have, and determine if you meet eligibility for test authorization.

Results Consultation

Review test results with a genetic counselor or medical geneticist. During this phone or video session, you are provided an opportunity to discuss the results of the test and their implications, including the level of certainty that a positive test result for the condition tested serves as a predictor of such disease.