Background:
Ovarian cancer is the fifth most deadly cancer in women. The Inherited Ovarian Cancer Panel offers a multi-gene panel that analyses genes associated with increased risk for ovarian cancer. Formal studies of families (linkage analysis) have proven the existence of autosomal dominant predispositions to breast and ovarian cancer and have led to the identification of several highly penetrant genes as the cause of inherited cancer risk in many families.
Understanding the molecular etiology of such cancer incidence can help guide treatment and proper surveillance. Our next-generation sequencing test is designed to detect mutations in the coding region of 7 genes associated with inherited ovarian cancer, or increasing the risk for cancer onset. Our microarray test is designed to identify single exon deletions and duplications in the same 7 inherited ovarian cancer-associated genes. Combining deletion/duplication data analyzed by microarray with next generation sequencing data will allow KDL to improve diagnostic yield and deliver more comprehensive results.
The results from genetic tests can facilitate assessment of levels of risk for patients and lead to more efficient and appropriate medical management. It is recommended that this testing be accompanied by a complete family history and genetic counseling.
Reasons for Referral:
- Confirmation of a clinical diagnosis of an inherited ovarian cancer.
- Testing for individuals with a positive family history for inherited ovarian cancer (targeted testing is available if familial mutation is known).
Methodology:
This test has two components:
Component 1: Next generation sequencing will analyze the exons or coding regions of 7 inherited ovarian cancer-associated genes using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Any gaps in coverage in clinically validated genes are completed with traditional Sanger sequencing such that 100% of the coding region of the above genes are covered at 10x coverage or more. Promoter, intronic, etc. regions are not assessed here but may contain variants that impact gene function.
Component 2: Microarray Analysis – A customized CytoSure “exon-centric” array (Oxford Gene Technology) will be used to detect deletions and duplications. The targeted array has enhanced probes targeted to the exonic regions of the 7 inherited ovarian cancer-associated genes medically relevant genes. The arrays will be run using Agilent SureScan technology. This array is an ideal complement to the next generation sequencing approach to provide a comprehensive mutation spectrum analysis for inherited cancer.
The 7 inherited ovarian cancer-associated genes are listed below:
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2
Specimen Requirements:
Blood: EDTA or ACD (Solution A or B):
- Adult: 5 mL
- Child: 2-3mL
- Infant: 1-2mL
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Weekly
Turn Around Time:
3 weeks
Shipment Sensitivity Requirements:
- Package and ship specimen to remain cold, but not frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services for shipping kits and instructions at (855) 535-1522.
References:
Additional Info: