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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.

Conditional

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 IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

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

BWS/RSS Molecular Analysis

Aliases Lists additional common names for a test, as an aid in searching

Beckwith-Wiedemann Syndrome (BWS)
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)