Hereditary Hemorrhagic Telangiectasia (HHT)


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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 TestTurnaround TimeCostCPT Codes
HHT: ENG/ACRVL1 Sequencing with reflex to Deletion/Duplication Analysis6-8 weeks$2,050*81406, 81479x2, 81405
HHT: ENG/ACRVL1 Sequencing with deletion/duplication analysis; if negative automatic reflex to SMAD4 Sequencing and deletion/duplication8-10 weeks$2,650*81406, 81479x2, 81405, 81406
HHT: ENG/ACRVL1 Deletion/Duplication Analysis3-4 weeks$75081479, 81405
HHT: SMAD4 Deletion/Duplication Analysis3-4 weeks$75081405
HHT: ENG/ACRVL1/SMAD4  Site Specific Analysis (familial)2-3 weeks$36081403
HHT: ENG/ACRVL1/SMAD4  Site Specific Analysis (familial) (Prenatal)7-10 days$46081403, 81265
HHT: SMAD4 Full Sequencing8-10 weeks$60081406

*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.

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

Additional Information