Number of Panel Genes: 
5

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

5 Panel Genes: ENG, ACVRL1, GDF2, RASA1, SMAD4
Next Generation Sequencing
$1,100
Test Code: 1721
Deletion / Duplication
$990
Test Code: 1722
NGS/Del Dup Comprehensive
$1,940
Test Code: 1723

Test Details

Technical Information
Panel Genes: 
ENG, ACVRL1, GDF2, RASA1, SMAD4
Disease Groups: 
Vascular Malformations
Skin, Tooth, Nail and Hair Disorders
MIM: 
187300
600376
615506
Billing
Price: 
$1,100
CPT Codes: 
81479 x 3
81406 x 2
Ordering
SKU:
1721
Turnaround Time: 
Typically 2 to 4 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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