Beckwith Wiedemann Syndrome (BWS)
Forms
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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: Site specific analysis (familial) mutation | 2-3 weeks | $600 (methylation) | 81401x2 for methylation |
| Beckwith-Wiedemann: Site specific analysis (familial) mutation | 2-3 weeks | $360 (CDKN1C) | 81403 for CDKN1C familial mutation |
| Beckwith-Wiedemann: Site specific analysis (familial) mutation | 2-3 weeks | Call for copy number analysis | Call for copy number analysis |
| 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 |
| Beckwith-Wiedemann: known familial mutation (Prenatal) | 1-3 weeks | $460 (CDKN1C) | 81403, 81265 for CDKN1C |
| Beckwith-Wiedemann: known familial mutation (Prenatal) | 1-3 weeks | 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 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