Hereditary Hemorrhagic Telangiectasia (HHT)
- HHT Info Sheet
- HHT Sample Requirements
- HHT Sample Requirements – Prenatal
- HHT Request Form – Proband
- HHT Request Form – Familial and Prenatal
*Please open the forms in Adobe Acrobat before printing.
Billing Information and Turnaround Time
|Name of Test||Turnaround Time||Cost||CPT Codes|
|HHT: Full Sequencing with automatic reflex to Deletion/Duplication Analysis||6-8 weeks||$1,800||81404, 81405x2, 81406|
|HHT: Deletion/Duplication Analysis only||3-4 weeks||$560||81404, 81405|
|HHT: Known Familial Mutation||2-3 weeks||$360||81403|
|HHT: Prenatal Diagnosis of Known Familial Mutation||7-10 days||$460*||81403, 81265|
|SMAD4: Full Sequencing as a reflex test||8-10 weeks||$600||81406|
- 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.
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.
Genetic Diagnostic Laboratory
University of Pennsylvania
415 Anatomy–Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104