- Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. European Journal of Human Genetics. 2009; 17(7): 860–71.
Individuals with a clinical or suspected diagnosis of hereditary hemorrhagic telangiectasia.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel