Germline Breast 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. Testing for companion drug access will be restricted to BRCA1 and BRCA2 genes. Criteria for testing based on personal or family history will include 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 Breast 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 Breast 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