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Beckwith Wiedemann Syndrome (BWS) Panel

Important Note

This is ordered as a Miscellaneous Genetic Test

 

Testing typically includes Methylation and high resolution copy number analysis of 11p15.5 with automatic reflex to CDKN1C if negative.

 

Completed UPenn test requisition required at time of order.

Clinical System Name

Beckwith-Wiedemann Syndrome Panel

Synonyms

BWS

CDKN1C

Description

Beckwith-Wiedemann Syndrome GeneReviews

Sample Requirements

Preferred specimen type: Whole Blood

Specimen: Whole Blood

Container(s): 2 Lavender/EDTA

Preferred Vol: 4.0 mL per Lavender/EDTA tube ~8mL total

Minimum Vol: Infants/newborn: 2 EDTA tube (lavender top) of blood – approximately 1-2 mL per tube

 

Specimen: Extracted DNA

Container(s): Sterile plastic tube

Preferred Vp; 3-4ug of previously isolated DNA at a concentration of 100-200 ng/uL.

 

Alternative Specimen (e.g. saliva or buccal): Alternate Specimen Collection Kits for Genetic Testing

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location: Do not spin. Deliver blood to the Send Outs refrigerator rack.

 

Off-site collection:

Stability

Specimen Type Temperature Time
Whole Blood Room temp

3 d
  Refrigerated 7 d
  Frozen Unacceptable
Extracted DNA Room temp 3-4 d
  Refrigerated 1 y
  Frozen Indefinitely

Availability

STAT Performed TAT
N   4-6 w

 

Performing Laboratory

University of Pennsylvania (UPenn)

 

Genetic Diagnostic Laboratory
University of Pennsylvania
Room 560 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104

Department

Department: Send Outs/Genetic

Phone: (206) 987-2563

Reference Range

Interpretive report provided

Methodology

Method: Methylation analysis of chromosome 11p15.5 is performed by methylation sensitive qPCR to measure the degree of methylation at the IC1 and IC2 regions. Paternal UPD is evidenced by methylation patterns that include both again of methylation at IC1 and loss of methylation at IC2. CDKN1C gene analysis is performed by Sanger sequencing of the coding exons.
Additionally, a custom comparative genomic hybridization and single nucleotide polymorphism (CGH + SNP) array designed using Agilent technologies. This high-density array is designed to detect exonic and intronic copy number changes in the targeted genes (CDKN1C, H19, IGF2, KCNQ1, and KCNQ1OT1) as small as 400 bp and 1.5kb, respectively. Only copy number variants within the 11p15.5 region will be analyzed. The array can detect copy neutral loss of heterozygosity. The analysis of the array hybridization data for targeted gene(s) is performed using Cytogenomics software (Agilent Technologies). These results may be confirmed by qPCR.

Special Instructions

Required Requisition

Beckwith Wiedemann Syndrome (BWS)

Send Out Instructions

Reference Test Name:

Beckwith Wiedemann Syndrome (BWS)
Reference Test Number:

 
Instructions:

Send within FIVE days of collection at room temperature via FedEx Priority Overnight shipping. Samples are received Monday - Friday AM.  U Penn does NOT accept Saturday delivery. If sample is drawn on a Friday, please refrigerate it until shipment on the following business day..