Invitae Brugada Syndrome Test
Use
This test is for individuals with a clinical diagnosis of Brugada syndrome, including up to 20 genes associated with Brugada syndrome or other inherited arrhythmia conditions. It assists in diagnosing or confirming the disease, clarifying risks, or guiding management for symptomatic individuals. Asymptomatic family members with a known pathogenic variant can reduce risk by avoiding triggers like certain medications.
Special Instructions
The test can be customized by removing genes via their website. Specimen collection kits are available upon request. This panel includes preliminary-evidence genes at no additional charge, which are genes with early evidence of clinical association.
Limitations
This test may not detect certain types of variants like structural rearrangements, inversions, or gene conversion events. There might be reduced sensitivity for single-exon deletion/duplication events due to technical limitations. Sequence analysis does not cover promoter regions, non-coding exons, or some non-coding regions 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)