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

Procedure 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. 
This test does not detect maternal uniparental disomy of chromosome 7 or cytogenetic abnormalities such as translocations or inversions.

Specimen Sources

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

Specimen Types

 Blood

Container

Varies

Collection Instructions

Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL

Specimen Type: Cord blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL

Specimen Type: Cultured fibroblasts
Source: Skin
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy.

Specimen Type: Tissue biopsy
Supplies: Hank's Solution (T132)
Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline
Specimen Volume: 0.5 to 3 cm(3) or larger

Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2mL with skirted conical base
Acceptable: Matrix tube, 1mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.

Specimen Volume

Varies

Transport Instructions

Varies

Specimen Stability

Specimen Stability Information: 
Whole Blood and Cord Blood: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Cultured Fibroblasts: Ambient (preferred) <24 hours/Refrigerated <24 hours
Tissue Biopsy: Ambient (preferred) <24 hours/Refrigerated <24 hours
Extracted DNA: Frozen (preferred) 1 year/Ambient/Refrigerated

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 Reason for Referral
BWRS SPECIMEN BWRSSPEC BWRS SPECIMEN BWRS Specimen
BWRS SOURCE BWRSSRC BWRS SOURCE BWRS Source
BWRS RELEASE BWRSREL BWRS RELEASE BWRS Released By

Result Interpretation

See Report

Forms
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