Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies
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
Not provided.
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.
New York Approved
Methodology
Other
Biomarkers
H19, KCNQ1OT1
Gene
LOINC Codes
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 42349-1
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |