Invitae Cardiomyopathy Comprehensive Panel
Use
This test provides a comprehensive analysis of the genes associated with inherited cardiomyopathy conditions. It helps in the diagnosis of individuals with clinical symptoms of inherited cardiomyopathy, allows for confirmation of diagnosis, clarifies risks, and informs management. This test can also be beneficial for asymptomatic individuals within a family with a known pathogenic variant, enabling them to avoid activities and medications that can trigger symptoms.
Special Instructions
Not provided.
Limitations
The test analyzes clinically important regions of each gene, including coding exons and select non-coding variants. Limitations exist for variants outside these regions, structural rearrangements, and complex architectural sequences like short tandem repeats. Certain types of variants, such as mosaicism, phasing, or mapping ambiguity, may not be fully resolved. Sequence changes in promoter or non-coding regions are not typically covered unless specifically 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