Hereditary Hemorrhagic Telangiectasia Panel
Use
Hereditary hemorrhagic telangiectasia (HHT), or Osler‑Weber‑Rendu syndrome, is an autosomal dominant vascular disorder characterized by telangiectasias, arteriovenous malformations (AVMs), and recurrent epistaxis. Clinical diagnosis uses Curacao criteria; molecular testing of HHT‑related genes (ACVRL1, ENG, GDF2, RASA1, SMAD4) aids diagnosis, especially in individuals with variable expressivity or overlapping features.
Special Instructions
Uses proprietary targeted capture for enrichment of complete coding regions and splice junctions of the five genes. Includes both sequencing and copy‑number analysis (NGS‑CNV). Secondary methods are used for regions with inadequate coverage. Variants reported according to HGVS guidelines; CNVs reported with coordinates or precise breakpoints.
Limitations
Sequencing sensitivity estimated >99% for single nucleotide variants. Does not reliably detect deletions >20 bp, insertions or rearrangements >10 bp, or low‑level mosaicism. CNV methods cannot reliably detect some complex or small alterations. Likely benign and benign variants are not routinely reported but are available on request.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided