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.

Testing

Hereditary Hemorrhagic Telangiectasia Gene Panel (Mayo ID: HHTGP)

When to Order

This test is useful for:

  • Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT) or a related disorder.
  • Second-tier testing for patients in whom previous targeted gene variant analyses for specific HHT genes were negative.
  • Establishing a diagnosis of HHT, and in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved.
  • Identifying variants within genes known to be associated with HHT and allowing for predictive testing of at-risk family members.

Specimen Information

Submit only 1 of the following specimens:

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

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)

Collection Instructions:

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

Performance Information

Day(s) and Time(s) Test Performed
Wednesday; Varies

Analytic Time
2 weeks