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
Not provided.
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
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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