Invitae Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel
Use
This test is beneficial for individuals with clinical symptoms of HHT or CM-AVM syndrome, aiding in establishing or confirming a diagnosis, clarifying risks, or informing management. Early diagnosis and treatment can help avoid secondary complications and adverse outcomes. Asymptomatic family members with a known HHT pathogenic variant may benefit by avoiding specific medications that can trigger symptoms.
Special Instructions
Not provided.
Limitations
The assay may not detect certain variants such as structural rearrangements or variants embedded in complex sequence architecture. Single-exon copy number events may not be analyzed in some rare situations due to sequence properties or reduced data quality. Some sequence changes in promoter and non-coding regions are not covered unless explicitly guaranteed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant