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

EPIC Order Name

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

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 Type

Other

Specimen Volume

Varies

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.

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

Result Interpretation

Forms

• Informed Consent Form