Pan Cardiomyopathy Panel (62 Genes)

Performance Characteristics

• Entire test performed in-house

This test is 99.93% sensitive (95% CI =99.92-99.94%) to detect variants changing a single base and 96.75% sensitive to detect insertion/deletions (95% CI =96.28-97.22%) within covered regions. Technical positive predictive value for single nucleotide variant changes is 99.42% (95% CI = 99.37-99.48%) and 94.16% (95% CI = 93.34-94.97%) for insertion/deletion changes within covered regions. There is demonstrated reduced detection for larger indels, especially in low complexity regions with corresponding low sequence coverage and in regions with high homology.

This test does not detect variants in non-coding regions that could affect gene expression, aside from the splice junctions, and a few exons have been excluded due to technical difficulties. CNV analysis is only performed when data meets necessary quality standards and may not be available for all cases.

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.

Yes

Method used for proficiency testingHelpMethod used for external or internal evaluation of the accuracy of test results. Lab-provided.

Intra-Laboratory

FDA Category Designation

FDA exercises enforcement discretion