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HelpBeckwith Wiedemann Syndrome (BWS) Panel
Clinical System Name
Beckwith-Wiedemann Syndrome Panel
Synonyms
BWS
CDKN1C
Description
Methylation analysis, deletion/duplication analysis, and sequencing to analyze genetic causes of Beckwith-Wiedemann Syndrome performed at UPenn.
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.
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
Methodology
Methylation-sensitive qPCR (quantitative polymerase chain reaction), array CGH (comparative genomic hybridization, SNP array (single nucleotide polymorphism), and Sanger sequencing
Reference Range
Interpretive report provided
Clinical Utility
A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.
Send Out Instructions
| Reference Test Name: | |
| 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.. |