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

Forms

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Billing Information and Turnaround Time

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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