Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant vascular dysplasia characterized by the presence of arteriovenous malformations (AVM) of the skin, mucosa, and viscera. Small AVM, or telangiectasias, develop predominantly on the face, oral cavity, and hands, and spontaneous, recurrent epistaxis (nose bleeding) is a common presenting sign.
Linnea Baudhuin, Ph.D., FACMG, Co-Director of the Personalized Genomics Laboratory at Mayo Clinic, provides an overview of the new familial hereditary hemorrhagic telangiectasia gene panel available through Mayo Medical Laboratories. She discusses which types of patients should be tested, how this approach improves upon previous methods, and what clinical action can be taken from the results of this test.
This test is useful for:
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (Preferred)/Refrigerated
Specimen Type: DNA
Container/Tube: 2 mL screw top tube
Specimen Volume: 100 mcL (microliters)
1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated
Day(s) and Time(s) Test Performed