HHTNext®
Use
Hereditary hemorrhagic telangiectasia (HHT) is characterized by arteriovenous malformations, spontaneous and recurrent nosebleeds (epistaxis), and telangiectases. Genetic testing for HHT can establish or confirm a diagnosis, identify the affected gene for accurate family testing, and determine the presence or absence of a mutation identified in a family member. This information aids in determining future risks and guiding medical management recommendations for individuals diagnosed with HHT.
Special Instructions
Family variant testing is offered at no additional cost for blood relatives of patients who undergo full single gene sequencing, multigene panel testing, or exome sequencing at Ambry Genetics and have a pathogenic or likely pathogenic variant. This service is available to patients receiving medical care in the U.S or US territories, and testing should be completed within 90 days of the original report date.
Limitations
The HHTNext test is designed to detect >99% of described mutations in the genes tested. However, exon-level resolution may not be achieved for every gene, and technical limitations may prevent detection of all pathogenic variants. Results may also vary based on clinical and family history, and certain DNA or protein changes that cause disease might not be detected due to technological or knowledge limitations.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Specimen must be collected using a sample kit available through Ambry Genetics.