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GTR Home > Tests > Pan Cardiomyopathy Sequencing Panel with CNV Detection

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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Copy Number Variant Analysis: The PGxome test detects most larger deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size (e.g., 1-3 exons vs. 4 or more exons), and inadequate coverage. In general, sensitivity for single, double, or triple exon CNVs is ~80% and for CNVs of four exon size or larger is close to 100%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.

Citations

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Proficiency Testing (PT)

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Yes
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Intra-Laboratory

FDA Regulatory Clearances of the Test

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FDA Category Designation
FDA exercises enforcement discretion

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