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Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Molecular Analysis
Test Code36380
Preferred Specimen
Lavender Top
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for information about testing patients who have received a bone marrow transplant.
Minimum Volume
NO MINIMUM
Other Acceptable Specimens
For all alternative specimen(s), refer to the Mayo Clinic Laboratories website
Instructions
Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Additional information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Note: No specimen should be rejected. If specimen is received in wrong anticoagulant or at an inappropriate temperature, include note to laboratory. If questions, contact laboratory. For all alternative specimen(s), refer to the Mayo Clinic Laboratories website.
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Additional information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Note: No specimen should be rejected. If specimen is received in wrong anticoagulant or at an inappropriate temperature, include note to laboratory. If questions, contact laboratory. For all alternative specimen(s), refer to the Mayo Clinic Laboratories website.
Transport Container
EDTA (lavender-top) tube or ACD (yellow-top) tube
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
Room temperature: 4 days
Refrigerated: 4 days
Frozen: 4 days
Refrigerated: 4 days
Frozen: 4 days
Methodology
Multiplex Ligation-Dependent Probe Amplification
Setup Schedule
Mon
Clinical Significance
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS).
Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS.
This assay does not detect maternal uniparental disomy of chromosome 7 or cytogenetic abnormalities such as translocations or inversions.
Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS.
This assay does not detect maternal uniparental disomy of chromosome 7 or cytogenetic abnormalities such as translocations or inversions.
