Pan Cardiomyopathy Panel
Use
This test is designed for individuals who have been diagnosed clinically with cardiomyopathy or have features suggestive of it. It is also suitable for patients requiring differential diagnosis among various cardiomyopathy types and for family members of patients presumed to have cardiomyopathy but have not undergone genetic testing. Additionally, it is useful for individuals who lack access to specific genetic variant information for a family member with a genetically-confirmed cardiomyopathy.
Special Instructions
Testing requires the completion of relevant clinical notes and a features checklist. A detailed pedigree is encouraged for accurate variant interpretation. Patient consent is mandatory as per the guidelines. Family testing options like duo/trio are available, which include demographics on the proband report.
Limitations
The test may not detect all genetic causations of cardiomyopathy. Variants in genes not included in the panel, or variants that are present in regions not well covered by NGS methods, may not be identified. False positives and negatives are inherent limitations of NGS technology.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
