Beckwith Wiedeman Syndrome (BWS)

Forms

*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 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)
$460* (CDKN1C)
81401x2, 81402, 81265 for methylation
81403, 81265 for CDKN1C
Beckwith-Wiedemann: familial mutation 2-3 weeks $600 (methylation)
$360 (CDKN1C)
81401x2, 81402 for methylation
81403 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 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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