Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel
Use
This test provides a comprehensive analysis of the genes associated with inherited arrhythmia and cardiomyopathy conditions. It is designed to enable efficient evaluation by assessing multiple conditions based on a single clinical indication for testing, benefiting individuals with symptoms suggestive of inherited arrhythmia or cardiomyopathy. Additionally, asymptomatic family members with a known pathogenic variant can benefit by identifying risks and avoiding triggers that may provoke symptoms.
Special Instructions
The test can be customized by selecting or removing specific genes. Preferred specimen is whole blood, with alternate options including saliva, buccal swab, and genomic DNA. For specimen collection kits and further requirements, refer to the provided resources.
Limitations
This test analyzes clinically important regions of each gene, typically including coding exons and adjacent intronic sequences. Variants outside these regions, such as structural rearrangements or sequence changes in non-coding regions, may not be detected. Sensitivity and specificity for single nucleotide variants and small indels is over 99%, but larger indels may have reduced sensitivity. Situations affecting genomic DNA, like neoplasms or transplants, may impact results.
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)