Beckwith Wiedemann Syndrome (BWS)

Forms

*Please open the forms in Adobe Acrobat before printing.


Billing Information and Turnaround Time

*Reflex testing options: Maximum cost is listed, although our lab only bills for the services performed. Final charge may be less than listed price, but cannot be determined until the testing has been completed.

Name of Test Turnaround Time Cost CPT Codes
Beckwith-Wiedemann: Methylation and high resolution copy number analysis of 11p15.5 with automatic reflex to CDKN1C if negative 4-6 weeks $1,950* 81401x2, 81479x2
Beckwith-Wiedemann: Methylation analysis of 11p15.5 with automatic reflex to CDKN1C if negative 4-6 weeks $1,200* 81401x2, 81479
Beckwith-Wiedemann: Methylation analysis of 11p15.5 only 3-4 weeks $600 81401x2
Beckwith-Wiedemann: 11p15.5 high resolution copy number analysis only (aCGH) 3-4 weeks $750 81479
Beckwith-Wiedemann: CDKN1C sequencing analysis only 3 weeks $600 81479
Beckwith-Wiedemann: known familial mutation 2-3 weeks $600 (methylation) 81401x2 for methylation
$360 (CDKN1C) 81403 for CDKN1C familial mutation
Call for copy number analysis Call for copy number analysis
Beckwith-Wiedemann: Methylation and high resolution copy number analysis of 11p15.5 with automatic reflex to CDKN1C if negative (Prenatal) 1-3 weeks $2,050* 81401x2, 81479x2, 81265
Beckwith-Wiedemann: Methylation analysis of 11p15.5 with automatic reflex to CDKN1C if negative (Prenatal) 1-3 weeks $1,300*
81401x2, 81479, 81265
Beckwith-Wiedemann: CDKN1C sequencing analysis only (Prenatal) 1-3 weeks $700 81479, 81265
Beckwith-Wiedemann: known familial mutation (Prenatal) 1-3 weeks $700 (methylation) 81401x2, 81265 for methylation
$460 (CDKN1C) 81403, 81265 for CDKN1C
Call for copy number analysis Call for copy number analysis
*All prenatal tests include MCC studies

Sample Requirements

  • 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 Instructions

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.

Shipping Address:
Genetic Diagnostic Laboratory
University of Pennsylvania
415 Anatomy–Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104

Additional Information

OMIM

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