Beckwith-Wiedemann/Russell-Silver BWRS

Synonyms

Allscripts (AEHR) Order Name

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

Sunrise Clinical Manager (SCM) Order Name

Beckwith-Wiedemann Syndrome/Russell-Silver Synd

Clinical Info

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 Information:
This test detects deletions/duplications and determines methylation status in the BWS/RSS gene cluster.

Specimen Type

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender Top EDTA Tube or Yellow ACD
Specimen: 3 mL Whole Blood (1 mL min)
Transport Temperature: Room temperature
Note; New York Clients-Informed consent is required-See Forms below

Transport Instructions

Room Temperature

Specimen Stability

Room temperature preferred

Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA)

Days Performed

TAT: 11-15 Days

Performing Laboratory

Mayo Medical Laboratories

CPT

81401-H19
81401-KCNQ1OT1(KCNQ1)
21265

PDM

225534

Result Interpretation

See Report

Forms

• Informed Consent Form