Beckwith Wiedemann Syndrome (BWS)
- BWS Info Sheet
- BWS Sample Requirements
- BWS Prenatal Sample Requirements
- BWS Request Form - Proband
- BWS Request Form - Familial
- BWS Request Form - Prenatal
*Please open the forms in Adobe Acrobat before printing.
Billing Information and Turnaround Time
|Name of Test||Turnaround Time||Cost||CPT Codes|
|Beckwith-Wiedemann: Methylation and copy number analysis of 11p15.5 with automatic reflex to CDKN1C if negative||4-6 weeks|
|Beckwith-Wiedemann: methylation and copy number analysis||3-4 weeks||$800||81401x2, 81402, 81403|
|Beckwith-Wiedemann: CDKN1C sequencing||3 weeks||$600||81404|
|Beckwith-Wiedemann: prenatal diagnosis for methylation and copy number analysis||1-3 weeks||$900*||81401x2, 81402, 81403, 81265|
|Beckwith-Wiedemann: prenatal diagnosis for CDKN1C analysis||1-3 weeks||$700*||81404, 81265|
|Beckwith-Wiedemann: prenatal diagnosis for methylation and copy number analysis with CDKN1C analysis||1-3 weeks||$1500*||81401x2, 81402, 81403, 81404, 81265|
|Beckwith-Wiedemann: prenatal diagnosis for known familial mutation||1-3 weeks||$700* (methylation)
|81401x2, 81402, 81265 for methylation
81403, 81265 for CDKN1C
|Beckwith-Wiedemann: familial mutation||2-3 weeks||$600 (methylation)
|81401x2, 81402 for methylation
81403 for CDKN1C
- We require 2 EDTA tubes (lavender top) of blood - approximately 4 mL per tube
- For a newborn sample, obtain 2 EDTA tube (lavender top) of blood - approximately 1-2 mL per tube
- Label each tube with the patientís name, date sample was obtained, and patientís date of birth
- We accept banked or recently extracted DNA; please include the concentration. Please call the laboratory to inquire about the amount needed for testing.
Please see our prenatal section for information on prenatal requirements.****Please note that only amniocytes are accepted for prenatal Beckwith-Wiedemann testing.
Shipping Sample: Ship at room temperature via Federal Express or other overnight courier that guarantees AM delivery to arrive Monday-Friday. There is no one in the laboratory evenings and weekends to receive samples. If sample is drawn on a Friday, please refrigerate it until shipment on the following business day.
Genetic Diagnostic Laboratory
University of Pennsylvania
415 Anatomy–Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104