Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS)


Sunquest Code:BWSRS  
Epic Code:LAB6242Epic Name:Beckwith-Wiedemann Syndrome
Synonyms:Beckwith Wiedemann Syndrome; Methylation Analysis
Methodology:Methylation - Sensitive Multiplex Ligation-Dependent Probe Amplification
CPT Code:81401, 81401
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 14-21 days.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing consent Form is provided as a convenience for the providers and genetic counselors.
Compliance:

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:3 mL
Minimum\Peds Volume:1 mL
Container:Purple (EDTA) (Yellow (ACD, Solution A) tube available from laboratory)


Processing and Shipping

Specimen Processing:Whole blood. Do not process.
Shipping Instructions:Ship overnight at room temperature. Samples must arrive at testing site wtihin 96 hours of collection.
Test Performed at or Referral Lab Lab Sendouts  (Mayo Medical Laboratories)
Referral Lab number:BWRS


Interpretive

Reference Range:By report.
Use:Detects deletions and duplications and determines methylation status in BWS/RSS gene cluster.


Click HERE to Report test errors or omissions.
*If no email program is associated with this computer, please contact:
systemlabguide@fairview.org for TestID: 4738"