Forms
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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.
Hereditary Hemorrhagic Telangiectasia Test Billing Information and Turnaround Time
| Name of Test |
Turnaround Time |
Cost |
CPT Codes |
| HHT: ENG/ACRVL1/SMAD4 Sequencing with automatic reflex to Deletion/Duplication Analysis |
6-8 weeks |
$2,750* |
81406, 81479, 81405x2 |
| HHT: ENG/ACRVL1/SMAD4 Site specific sequencing analysis (familial) |
2-3 weeks |
$520 |
81403 |
| HHT: ENG/ACRVL1 SMAD4 Site specific sequencing analysis (Prenatal) |
7-10 days |
$764 |
81403, 81265, 99199 |
*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
Hereditary Hemorrhagic Telangiectasia on the Online Mendelian Inheritance in Man (OMIM®)
