Skip to main content

Hereditary Hemorrhagic Telangiectasia (HHT) (Known Mutation)

Test Number 480192
Test number copied
CPT Call client services.

Test Details

Methodology

Sequencing or quantitative multiplex polymerase chain reaction (QM-PCR) to screen for copy number changes as needed for the known mutation type

Result Turnaround Time

28 - 52 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.

Test Includes

Genes tested: ENG (endoglin), HHT1; ACVRL1 (ALK1), HHT2; or SMAD4 (MADH4)

Use

Testing for individuals who are at risk to have HHT (maybe affected or unaffected); the genetic mutation would have been determined already in another family member.

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.

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).

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 Instructions

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 five days

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
480192 HHT Relative 234042 Routing 69482-8
Order Code480192
Order Code NameHHT Relative
Order Loinc
Result Code234042
Result Code NameRouting
UofM
Result LOINC69482-8
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480198 Copy # ENG 480198 Copy # ENG N/A
Reflex 1
Order Code480198
Order NameCopy # ENG
Result Code480198
Result NameCopy # ENG
UofM
Result LOINCN/A
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480197 Sequencing of Eng 480197 Sequencing of Eng N/A
Reflex 1
Order Code480197
Order NameSequencing of Eng
Result Code480197
Result NameSequencing of Eng
UofM
Result LOINCN/A
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480189 Copy or Seq ACVRL1 or SMAD4 480189 Copy or Seq ACVRL1 or SMAD4 N/A
Reflex 1
Order Code480189
Order NameCopy or Seq ACVRL1 or SMAD4
Result Code480189
Result NameCopy or Seq ACVRL1 or SMAD4
UofM
Result LOINCN/A