Hereditary Cancer – Medical Genetics Only – RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering Recommendations
- Aside from the mainstreaming initiative for breast, ovarian, and metastatic prostate cancer, other types of hereditary cancer testing are offered to the Medical Genetics Clinic only. Criteria for testing are based on personal or family history with gene panels; the options are described on the RRPL Requisitions and Completion Aids page.
Ordering requirements
- Use the Hereditary Cancer Requisition
- Some NGS cancer panels are restricted to medical geneticists and genetic counsellors in the Medical Genetics Clinic.
- 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
- Inherited Cancer and Endocrine Gene Panels, Specific Variant
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 Hereditary Cancer NGS Panel are assessed using personal and family history through a detailed consultation with the medical genetics’ clinic.
- 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. Targeted familial variant analysis is also offered.
- Clinical result interpretations: Interpretation provided on report.
Specimen retention time
- For more information, please visit the RRPL Requisitions and Completion Aids page.
Last Updated: April 2, 2024