Germline Testing

Approximately 24% of all ovarian cancer is hereditary.

Per national guidelines, all ovarian cancer patients are eligible for genetic testing.

Why should I do somatic AND germline testing?

Hereditary genetic testing does not tell you if your patient has cancer, but whether they and their family are at an increased risk to develop other cancers in the future.

Even if your patient is negative for an inherited BRCA1/2 mutation, it is still possible that they have a BRCA mutation that is only found in their tumor. Testing for BRCA mutations in tumor, as well as other features of genomic instability can also determine if they are eligible for PARP inhibitor therapy.

Myriad tumor and germline results with one order

*To request reflex testing, please write "run if germline negative" at the top of the myChoice®CDx TRF. Myriad will process the germline testing through Myriad myRisk® first. If germline results for either BRCA1 or BRCA2 are negative Myriad myChoice®CDx will be run on the requested tumor tissue.

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myChoice® CDx Intended Use

Myriad myChoice® CDx is a next generation sequencing-based in vitro diagnostic test that assesses the qualitative detection and classification of single nucleotide variants, insertions and deletions, and large rearrangement variants in protein coding regions and intron/exon boundaries of the BRCA1 and BRCA2 genes and the determination of Genomic Instability Score (GIS) which is an algorithmic measurement of Loss of Heterozygosity (LOH), Telomeric Allelic Imbalance (TAI), and Large-scale State Transitions (LST) using DNA isolated from formalin-fixed paraffin embedded (FFPE) tumor tissue specimens.

The results of the test are used as an aid in identifying ovarian cancer patients with positive homologous recombination deficiency (HRD) status, who are eligible, because of a positive test result for deleterious or suspected deleterious mutations in BRCA1 or BRCA2 genes, or may become eligible, because of a positive test result for deleterious or suspected deleterious mutations in BRCA1 or BRCA2 genes or a positive Genomic Instability Score, for treatment with the targeted therapy listed in Table 1 in accordance with the approved therapeutic product labeling.

Table 1: Companion diagnostic indications

Tumor TypeBiomarkerTherapy
Ovarian CancerMyriad HRD (defined as deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes and/or positive Genomic Instability Score)Lynparza® (olaparib)
Zejula® (niraparib)

Detection of deleterious or suspected deleterious BRCA1 and BRCA2 mutations and/or positive Genomic Instability Score in ovarian cancer patients is also associated with enhanced progression-free survival (PFS) from Zejula® (niraparib) maintenance therapy. This assay is for professional use only and is to be performed only at Myriad Genetic Laboratories, Inc., a single laboratory site located at 320 Wakara Way, Salt Lake City, UT 84108.

* A companion diagnosti is not a requirement for all uses for Zejula. Questions regarding Zejula should be directed to its manufacturer, GSK.