Test Catalog

Test ID: BWRS    
Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies

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 genetic test or proper submission of the test request

This test 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 tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations 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 (nonconfluent 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 Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification (MLPA)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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)
BWSRS
H19
IC1
IC2
LIT1
RSS (Russell-Silver syndrome)
Russell-Silver syndrome (RSS)
Silver-Russell syndrome (SRS)
SRS (Silver-Russell syndrome)
Wilm's Tumor