Other Genetic Test – RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering recommendations
- If molecular genetic testing is needed for conditions not listed in the compendium then use this test. List the suspected genetic condition under the ‘Other Genetic Test’ selection on the requisition along with completing the greyed boxes on page 2 of the requisition. This will trigger the Genetic Resource Centre process which will aid in completing the necessary test order.
Ordering requirements
- This test has been pre-approved for select medical specialties as indicated (Physician Approval to Order)
- Other physicians may inquire about getting their patient tested through the Genetics Resource Centre process
- Rush/urgent cases must be indicated on the requisition along with an e-mail to RRPLMolecularGenetics@saskhealthauthority.ca
- If this test will impact an ongoing pregnancy, also fax an urgent referral to the division of medical genetics: 306-655-1736 (otherwise see Genetic Resource Centre process)
Alias
- Long Term DNA Storage, Short Term DNA Storage, DNA Banking
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
- For neonates: 1 EDTA containing a minimum of 0.5 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): To extract DNA from EDTA blood and freeze until testing is ordered.
- How testing is performed: DNA extraction and banking at RRPL.
- 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