Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication
Also known as: HHT PANEL
Use
This test is used for diagnosing individuals with clinical features of hereditary hemorrhagic telangiectasia (HHT). The condition is characterized by telangiectases of the hands, mouth, face, and nasal and gastrointestinal mucosa. The most common symptom is recurrent nosebleeds. Arteriovenous malformations (AVMs) may also occur in the lungs, liver, brain, and spinal cord, leading to complications such as congestive heart failure or embolic stroke. This test identifies pathogenic variants associated with HHT, providing important insights for diagnosis and management.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Consent forms are available for ordering. Specimen preparation requires refrigeration and should avoid serum, plasma, hemolyzed or frozen samples, saliva, buccal brushes, swabs, or FFPE tissue.
Limitations
The test may not detect all variants of the targeted genes, specifically large indels greater than 10 bases, certain deletions/duplications, and variants in regulatory or deep intronic regions. The assay is not designed for detecting low-level mosaicism, somatic variants, gene conversion events, complex inversions, translocations, or mitochondrial DNA variants. Single exon deletions may be detected with reduced sensitivity based on their breakpoints.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |