Hereditary Hemorrhagic Telangiectasia (HHT)


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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
*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.

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


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