Beckwith-Wiedemann Syndrome (BWS) - RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering recommendations
- This test should be the first-line diagnostic test for a suspected clinical diagnosis of Beckwith-Wiedemann syndrome (BWS).
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
- BWS, Isolated hemihypertrophy, CDKN1C
Specimen Information
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 as well as deletions and duplications within the 11p15 region. This assay will detect UPD11. Sanger sequence analysis of all coding regions of CDKN1C.
- How testing is performed: Referred out. 11p15 methylation sensitive MLPA and CDKN1C sanger sequencing
- Clinical result interpretations: Interpretation provided on report.
Specimen retention time
- For more information, please see the FAQs About DNA Banking at RRPL.
Last Updated: March 28, 2024