Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary hemorrhagic telangiectasia (HHT) affects 1 in 5,000 –10,000 individuals. It is a vascular disorder characterized by telangiectasias, arteriovenous malformations (AVMs), and recurrent nose bleeds (epistaxis). Telangiectasias are commonly detected on the buccal mucosa, tongue, lips, face, fingers, and chest, while AVMs are often found in the lung, liver, or brain. Diagnostic criteria, called the Curacao criteria, have been established for HHT. Diagnosis requires the presence of at least three of the following: epistaxis, telangietasias, a visceral lesion, and family history of HHT in a first degree relative. HHT is often diagnosed in adolescence or adulthood. However, cases of severely affected infants have been reported. Clinical features and age of onset of HHT may vary considerably, even within a family. 

Tests Available

Forms and Documents

Test Details

ACVRL1, ENG, GDF2, RASA1, SMAD4
  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

697
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.
  2. Kjeldsen et al. (1999) J. Intern. Med. 245 (1):31-9 (PMID: 10095814)
  3. Marchuk et al. (1998) Am. J. Med. Genet. 76 (3):269-73 (PMID: 9508248)
  4. McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2014 Jul 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: htt
  5. Shovlin et al. (2010) Blood Reviews 24 (6):203-19 (PMID: 20870325)
  6. Lesca et al. (2007) Genet. Med. 9 (1):14-22 (PMID: 17224686)
  7. Harrison et al. (2003) Journal Of Medical Genetics 40 (12):865-71 (PMID: 14684682)
  8. Wooderchak-Donahue et al. (2013) American Journal of Human Genetics 93 (3):530-7 (PMID: 23972370)
  9. McDonald et al. (2015) Front Genet 6:1 (PMID: 25674101)
  10. Gallione et al. (2006) Journal Of Medical Genetics 43 (10):793-7 (PMID: 16613914)
  11. Gallione et al. (2004) Lancet 363 (9412):852-9 (PMID: 15031030)
  12. Bayrak-Toydemir P, Stevenson D. RASA1-Related Disorders. 2011 Feb 22 [Updated 2013 Dec 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://ww
  13. Hernandez et al. (2015) Hum Genome Var 2 :15040 (PMID: 27081547)
  14. Lesca et al. (2006) Human Mutation 27 (6):598 (PMID: 16705692)
  15. Letteboer et al. (2005) Human Genetics 116 (1-2):8-16 (PMID: 1557393)
  16. Brusgaard et al. (2004) Clin. Genet. 66 (6):556-61 (PMID: 15521985)
  17. Abdalla et al. (2005) Human Mutation 25 (3):320-1 (PMID: 15712271)
  18. Schulte et al. (2005) Human Mutation 25 (6):595 (PMID: 15880681)
  19. Prigoda et al. (2006) Journal Of Medical Genetics 43 (9):722-8 (PMID: 16690726)
  20. Bossler et al. (2006) Human Mutation 27 (7):667-75 (PMID: 16752392)
  21. McDonald et al. (2011) Clinical Genetics 79 (4):335-44 (PMID: 21158752)
  22. Richards-Yutz et al. (2010) Hum. Genet. 128 (1):61-77 (PMID: 20414677)
  23. Revencu et al. (2008) Human Mutation 29 (7):959-65 (PMID: 18446851)