Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies

Casandra

Casandra Test Code MC15180Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID BWRSCPT Codes 81265, 81401, 88233, 88235, 88240

Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies

Clinical Use

Use

This test is useful for confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS). It is particularly important for prenatal diagnosis when there is a high suspicion of these syndromes based on ultrasound findings or in families at risk. The test detects deletions/duplications and determines methylation status in the BWS/RSS gene cluster, helping to identify the genetic causes of these syndromes associated with abnormal growth and tumor predisposition.

Special Instructions

New York clients require informed consent for genetic testing. It's important to note that the assay does not detect maternal uniparental disomy of chromosome 7 or cytogenetic abnormalities such as translocations or inversions. Previous bone marrow transplants from an allogenic donor may interfere with testing. Consultation with the laboratory is advised for all prenatal testing requests.

Limitations

This test does not detect maternal uniparental disomy of chromosome 7 or any cytogenetic abnormalities such as translocations or inversions. The methylation-sensitive MLPA technique might not identify the mechanism responsible for methylation defects. Additionally, rare polymorphisms can lead to false-negative or false-positive results. Testing is not suitable for chorionic villus specimens, and results may be inconclusive without proper clinical context or history.

Test Details

New York Approved