Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by telangiectases and arteriovenous malformations (AVMs) of the skin, mucosa and viscera.  Epistaxis is the most frequent presenting finding.  Gastrointestinal bleeding and telangiectases on the face, lips, tongue, fingers, and chest are other common clinical features.  AVMs within the lungs, liver, and brain are a significant cause of morbidity.read more

Tests Available

By gene: GDF2
Sanger Sequencing
$475
Test Code: 1718
Deletion / Duplication
$680
Test Code: 1719
Sanger/Del Dup Comprehensive
$1,055
Test Code: 1720

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Test Details

Technical Information
Genes: 
GDF2
Disease Groups: 
Vascular Malformations
Skin, Tooth, Nail and Hair Disorders
MIM: 
615506
Billing
Price: 
$475
CPT Codes: 
81479 x 1
Ordering
SKU:
1718
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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