Invitae Arrhythmogenic Cardiomyopathy Panel
Use
The Invitae Arrhythmogenic Cardiomyopathy Panel provides a comprehensive analysis of genes associated with inherited cardiomyopathy conditions that have a prominent arrhythmia phenotype or that may present with arrhythmia prior to the development of cardiomyopathy. Diagnostic testing can help establish or confirm diagnosis, clarify risks, or inform management for individuals with clinical symptoms, and can guide decision-making for asymptomatic individuals within a family with a known pathogenic variant.
Special Instructions
The panel allows for broad testing of multiple genes related to arrhythmogenic cardiomyopathy, facilitating an efficient evaluation based on a single indication for testing. The test can be customized by selecting specific genes to include or exclude.
Limitations
The assay does not analyze variants outside the clinically important regions of genes. Some structural rearrangements, like inversions or translocations, may not be detected. It may be challenging to resolve certain variant details, such as mosaicism. Sequence changes in non-coding regions are generally not covered unless explicitly stated. Rare single-exon copy number events may not be analyzed due to sequence properties or data quality issues.
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)