Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel

Condition Description

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. Of the five types of HHT identified, three have been linked to specific genes. More than 80% of all cases of HHT are due to mutations in either ENG or ACVRL1. SMAD4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease-causing mutations.

Reference:
  • Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. European Journal of Human Genetics. 2009; 17(7): 860–71.

Genes (5)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.

Indications

The test is indicated for:
  • Individuals with a clinical or suspected diagnosis of hereditary hemorrhagic telangiectasia.

Methodology

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.

Detection

Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 24 hours of collection. Do not refrigerate or freeze.
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Hereditary Hemorrhagic Telangiectasia: Sequencing Panel

How to Order

Requisition Forms