Hereditary Hemorrhagic Telangiectasia (HHT)

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
HHT: ENG/ACRVL1 Sequencing with automatic reflex to Deletion/Duplication Analysis 6-8 weeks $2,050* 81406, 81479x2, 81405
HHT: ENG/ACRVL1 Sequencing with deletion/duplication analysis; if negative automatic reflex to SMAD4 Sequencing and deletion/duplication 8-10 weeks $2,650* 81406, 81479x2, 81405, 81406
HHT: ENG/ACRVL1 Deletion/Duplication Analysis 3-4 weeks $750 81479, 81405
HHT: SMAD4 Deletion/Duplication Analysis 3-4 weeks $750 81405
HHT: ENG/ACRVL1 Familial Mutation 2-3 weeks $360 81403
HHT: ENG/ACRVL1 Familial Mutation (Prenatal) 7-10 days $460 81403, 81265
HHT: SMAD4 Full Sequencing 8-10 weeks $600 81406
HHT: SMAD4 Familial Mutation 2-3 weeks $360 81403
HHT: SMAD4 Familial Mutation (Prenatal) 7-10 days $460 81403, 81265
*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

OMIM

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