Hereditary Hemorrhagic Telangiectasia NGS panel

Genes
(full coding
region):		 ACVRL1, ENG, GDF2, RASA1, SMAD4

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Differential diagnosis
  3. Testing at-risk asymptomatic individuals
  4. Prenatal diagnosis for known familial mutation
  5. Genetic counseling

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins.

Spontaneous recurrent nosebleeds are the most common and usually earliest clinical manifestation of HHT. Telangiectases are found primarily on the lips, tongue, buccal mucosa, face, chest, and fingers. AVMs occur most commonly in the lungs, liver, and brain. Major complications of HHT include severe anaemia from chronic nasal and gastrointestinal haemorrhage, stroke, deep venous thromboses, and severe pulmonary hypertension.

HHT affects 1 in 5–8000, and is inherited as an autosomal-dominant trait.

References:

Govani FS Shovlin CL 2009. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009 Jul; 17(7): 860–871. Published online 2009 Apr 1. doi: 10.1038/ejhg.2009.35
Kjeldsen ADet al 1999. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999;245:31–39.
McDonald J and Pyeritz RE 2000. Hereditary Hemorrhagic Telangiectasia. GeneReviews®. Last Update: February 2, 2017.