Overview
Test order codeHelpLaboratory's order or catalog code for the test (used in the order requisition form).: HHTGG
HHT and Vascular Gene Panel (HHTGG)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Loading data ......
Click Indication tab for more information.
https://www.mayocliniclabs.com/test-catalog/Overview/617295#Specimen
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mayocliniclabs.com/order-tests/index.html
Specimen source
Peripheral (whole) blood
- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
Loading data ......
Click Methodology tab for more
information.
Establish or confirm diagnosis
Citations- Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). - PubMed ID:
11845407
- BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. - PubMed ID:
18792970
- Hereditary Hemorrhagic Telangiectasia - PubMed ID:
20301525
- Capillary Malformation-Arteriovenous Malformation Syndrome - PubMed ID:
21348050
- Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. - PubMed ID:
23375657
- Familial Cerebral Cavernous Malformations. - PubMed ID:
30909834
- A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report. - PubMed ID:
32756122
- Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. - PubMed ID:
32894695
- Boon LM, Vikkula M. Multiple cutaneous and mucosal venous malformations. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2008. Updated May 17, 2018. Accessed July 26, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1967/
- https://www.ncbi.nlm.nih.gov/books/NBK1351
- https://www.ncbi.nlm.nih.gov/books/NBK52764
Predictive risk information for patient and/or family members
Citations- Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). - PubMed ID:
11845407
- BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. - PubMed ID:
18792970
- Hereditary Hemorrhagic Telangiectasia - PubMed ID:
20301525
- Capillary Malformation-Arteriovenous Malformation Syndrome - PubMed ID:
21348050
- Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. - PubMed ID:
23375657
- Familial Cerebral Cavernous Malformations. - PubMed ID:
30909834
- A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report. - PubMed ID:
32756122
- Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. - PubMed ID:
32894695
- Boon LM, Vikkula M. Multiple cutaneous and mucosal venous malformations. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2008. Updated May 17, 2018. Accessed July 26, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1967/
- https://www.ncbi.nlm.nih.gov/books/NBK1351
- https://www.ncbi.nlm.nih.gov/books/NBK52764
Not provided
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.