Skip to main content

Hereditary Hemorrhagic Telangiectasia (HHT), Proband

Test Number 480074
Test number copied
CPT Call client services.

Test Details

Methodology

Full gene sequencing and quantitative multiplex polymerase chain reaction (QM-PCR) to screen for copy number changes

Result 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.

Test Includes

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

Use

Analysis used for individuals affected clinically with HHT, usually the first person in the family to have genetic testing

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 seven 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
480074 HHT Proband 234041 Routing N/A
Order Code480074
Order Code NameHHT Proband
Order Loinc
Result Code234041
Result Code NameRouting
UofM
Result LOINCN/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 1
Order Code480169
Order NameCopy # of ENG & ACVR1
Result Code480169
Result NameCopy # of ENG & ACVR1
UofM
Result LOINCN/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 1
Order Code480185
Order NameSeq ACVRL1 and or SMAD4
Result Code480185
Result NameSeq ACVRL1 and or SMAD4
UofM
Result LOINCN/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
Reflex 1
Order Code480184
Order NameSeq ENG
Result Code480184
Result NameSeq ENG
UofM
Result LOINCN/A