GTR Home > Tests > Nuclear encoded Mitochondriopathies Panel

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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For diagnostic sequencing we require a minimal coverage of 30 high-quality, uniquely mapping non-duplicate reads over at least 97% of the target region. At this level, the lowest expected sensitivity is 99.998%. Pathogenic and unclear variants are resequenced using Sanger sequencing, providing a second, independent, confirmation.

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
No

FDA Regulatory Clearances of the Test

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Not provided

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