Find Locations
For hours, walk-ins and appointments.Hereditary Hemorrhagic Telangiectasia (HHT), Proband
CPT:
Call client services.
Test Includes
Genes tested: ENG (endoglin), HHT1; ACVRL1 (ALK1), HHT2; SMAD4 (MADH4)
Special Instructions
This test is performed at Impact Genetics, Bowmanville, Ontario, Canada. Please direct any questions regarding this test to Impact Genetics at 877-624-9769.
Expected Turnaround Time
63 - 98 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Specimen Requirements
Specimen
Whole blood or DNA
Volume
8.5 mL (adult); 5 mL (infant)
Minimum Volume
4 mL (adult); 2 mL (infant)
Container
Yellow-top (ACD) tube or lavender-top (EDTA) tube
Collection
Whole blood samples must be received at Impact Genetics within five days of collection. Do not freeze.
Storage Instructions
Room temperature. Stable at room temperature for seven days.
Test Details
Use
Analysis used for individuals affected clinically with HHT, usually the first person in the family to have genetic testing
Limitations
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Methodology
Full gene sequencing and quantitative multiplex polymerase chain reaction (QM-PCR) to screen for copy number changes
References
Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease. J Med Genet. 2006 Feb; 43(2): 97-110. 15879500
Abdalla SA, Cymerman U, Rushlow D, et al. Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum Mutat. 2005 Mar; 25(3): 320-321. 15712271
Cohen JH, Faughnan ME, Letarte M, Vandezande K, Kennedy SJ, Krahn MD. Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. Am J Med Genet A. 2005 Aug 30; 137(2):153-160. 16059938
Gallione CJ, Richards JA, Letteboer TG, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet. 2006 Oct; 43(10):793-797. 16613914
Prigoda NL, Savas S, Abdalla SA, et al. Hereditary haemorrhagic telangiectasia: Mutation detection, test sensitivity and novel mutations. J Med Genet. 2006 Sep; 43(9):722-728. 16690726
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 480074 | HHT Proband | 234041 | Routing | N/A |
| Reflex Table for Routing | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 480169 | Copy # of ENG & ACVR1 | 480169 | Copy # of ENG & ACVR1 | N/A | |
| Reflex Table for Routing | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 480185 | Seq ACVRL1 and or SMAD4 | 480185 | Seq ACVRL1 and or SMAD4 | N/A | |
| Reflex Table for Routing | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 480184 | Seq ENG | 480184 | Seq ENG | N/A | |
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