Sturge-Weber Syndrome/Non-Syndromic Port-Wine Stain Testing (SWS)

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
Sturge-Weber Syndrome and Non-syndromic Port-Wine Stains: GNAQ analysis 4-5 weeks $800 81401x2

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
  • We require 50 mg or more of skin tissue (one 3mm punch biopsy) from the affected skin (area with port-wine stain) shipped in tissue culture media.

Label each sample 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.

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

Port-wine stains - OMIM

Sturge-Weber syndrome - OMIM

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