Test ID: BWSRS
Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Molecular Analysis
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
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
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Detects deletions/duplications and determines methylation status in the BWS/RSS gene cluster
Germline and prenatal testing are available on blood and amniocyte specimens, respectively. Prenatal testing for Beckwith-Wiedemann syndrome and Russell-Silver syndrome cannot be performed on chorionic villus specimens.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
| AFC | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
For prenatal specimens only: If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Diagnostic Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
BWS (Beckwith-Wiedemann Syndrome)
Wilm's Tumor
Russell-Silver syndrome (RSS)
RSS (Russell-Silver syndrome)
H19
LIT1
IC1
IC2
SRS (Silver-Russell syndrome)
Silver-Russell syndrome (SRS)
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