Russell Silver Syndrome - RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering recommendations
- This test should be used as the first-line diagnostic test in a child with a suspected clinical diagnosis of Russell-Silver (RSS).
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
- RSS
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): Designed to detect abnormal methylation of the two imprinted domains located within the chromosome 11p15 BWS/RSS gene cluster, abnormal methylation at 7p14-p11.1 and 7q32, as well as deletions and duplications within these regions. This assay will detect UPD11 and UPD7 or infer an imprinting defect on chromosome 11 or 7.
- How testing is performed: Referred Out. Methylation sensitive MLPA
- 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