Genomic Unity® Cardiomyopathy and Arrhythmia Analysis
Use
Genomic Unity® Cardiomyopathy and Arrhythmia Analysis is designed to identify genetic variants that cause cardiomyopathy and/or arrhythmia. It leverages a whole genome platform to detect major clinically relevant variant types from a single sample and focuses on over 100 genes associated with these conditions. It replaces multiple tests, including targeted gene panels, single gene analyses, and PCR or southern blot tests for short tandem repeat expansions.
Special Instructions
Not provided.
Limitations
The BRAF, EMD, KCNE1, KCNQ1, and TAZ genes are not fully covered, limiting detection of pathogenic variants. Certain regions in KCNE1 and TTN (NM_001267550, exons 175-197) have non-unique sequences making precise location assignments difficult. Sensitivity is reduced for FLNC gene (NM_001458.5) exons 47–48. TTN heterozygous missense and NFS-INDEL are typically excluded. CBL gene repeat expansions aren’t reported.
Methodology
NGS (Whole Genome Sequencing)
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided