Inpatient and Outpatient Orderable

Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Build info

Synonyms

  • BWRS-BECKWITH WIEDEMANN SYNDROME/RUSSELL
  • BWRS
  • BECKWITH-WIEDEMANN/RUSSELL-SILVER
  • BECKWITH-WIEDEMANN SYNDROME/RUSSELL-SILVER SYND
  • BECKWITH-WIEDEMANN SYNDROME/RUSSELL-SILVER SYNDROME, MOLECULAR ANALYSIS, VARIES
  • LAB12478

Short Name

BWRS-BECKWITH WIEDEMANN SYNDROME/RUSSELL

Procedure Master Number

LAB12478

Procedure ID

137029

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 Sources

 Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

 Blood

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

Only Orderable at Locations:

 Orderable Everywhere

Results
Component Name Base Name Common Name External Name
BWRS RESULT SUMMARY BWRSRESSUM BWRS RESULT SUMMARY Bwrs Result Summary
BWRS RESULT BWRSRES BWRS RESULT Bwrs Result
BWRS INTERPRETATION BWRSINT BWRS INTERPRETATION Bwrs Interpretation
BWRS REFERRAL REASON BWRSREF BWRS REFERRAL REASON Bwrs Referral Reason
BWRS SPECIMEN BWRSSPEC BWRS SPECIMEN Bwrs Specimen
BWRS SOURCE BWRSSRC BWRS SOURCE BWRS Source
BWRS RELEASE BWRSREL BWRS RELEASE Bwrs Release