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: ACVRL1
Sanger Sequencing
$700
Test Code: 1406
|
Deletion / Duplication
$900
Test Code: 1407
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1558
|
Related Panels
Test Details
Technical Information
Genes:
ACVRL1
Disease Groups:
Vascular Malformations
Skin, Tooth, Nail and Hair Disorders
MIM:
600376
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1406 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.