Germline Ovarian NGS Cancer Panel – RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering Recommendations
- Surgeons and oncologists can order a multi-gene panel testing who meet specific criteria. This is known as “mainstreamed” hereditary cancer testing. The ovarian NGS test panel includes the following 17 genes: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53.
Ordering Requirements
- Use Germline Ovarian NGS Cancer Panel Requisition
- This test has been pre-approved for surgeons and oncologists, who have had mainstreaming orientation.
- Other physicians may inquire about getting their patient tested through the Genetics Resource Centre process (see GRC FAQ document)
- Rush/urgent cases must be indicated on the requisition with “date required by” filled in, along with an e-mail to RRPLMolecularGenetics@saskhealthauthority.ca.
Alias
- HBOC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53
Specimen Information
Specimen types accepted
- Whole blood: Lavender (EDTA) 4.0 mL
Specimen collection container
- Preferred collection container: Lavender (EDTA) 4.0 mL
- Alternative collection container: Microcollection - EDTA
Required volume
- Optimal volume: 8 mL
- Minimum volume: 0.5 mL
- Pediatric volume: 0.5-3 mL
EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw
- For patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
- For patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood
Transport and stability
- Specimen specific storage and transport instructions (ex. Frozen, ship on ice, temperature specification)
- Room temperature: if being shipped on same day of collection (preferred).
- Refrigerated: If shipping is delayed
Performance
Methodology
- Purpose of test (brief): The indications for this Ovarian Cancer Panel will likely change over time. Please review the requisition for the most up-to-date list of eligibility criteria.
- How testing is performed: Next generation sequencing. CNV will be covered using dMLPA. Frameshift or low-quality variants with clinical or uncertain significance will be confirmed by Sanger sequencing.
- Clinical result interpretations: Interpretation provided on report.
Specimen retention time
- For more information, please visit the RRPL Requisitions and Completion Aids page.
Last Updated: March 28, 2024