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.

Beckwith Wiedemann Syndrome (BWS) Test Billing Information and Turnaround Time
Name of Test Turnaround Time Cost CPT Codes
BWS: Methylation and high resolution copy number analysis of 11p15.5 with automatic reflex to CDKN1C if negative 4-6 weeks $2,600* 81401x2, 81479, 81404
BWS: Methylation analysis of 11p15.5 only 3-4 weeks $830 81401x2
BWS: 11p15.5 high resolution copy number analysis only (aCGH) 3-4 weeks $940 81479
BWS: CDKN1C sequencing analysis only 3 weeks $830 81404
BWS: Site specific sequencing (familial) 2-3 weeks $520 81403
BWS: Methylation analysis of 11p15.5 with automatic reflex to CDKN1C if negative (Prenatal) 7-10 days $2132* 81401x2, 81404, 81265, 99199
BWS: Site specific methylation or sequencing           (Familial)  (Prenatal)

7-10 days

$1136   

$764

81401x2, 81265, 99199for methylation

81403,81265, 99199 for CDKN1C

*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 patient’s name, date sample was obtained, and patient’s 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
Room 560 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104

Additional Information

Beckwith-Wiedemann Syndrome information on Online Mendelian Inheritance in Man (OMIM®)