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GTR Home > Tests > MVL Vision Panel

MVL Vision Panel

  • GTR Test IDHelp: GTR000604111.1
  • Last updated: 2023-02-14
  • Test version history

Clinical testHelp for Bardet-Biedl syndrome 18
Offered by Molecular Vision Laboratory

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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Our MVL Vision Panel (v18) consists of 1024 genes with an average coverage of 500 reads and at least 30X coverage in >96% of the panel. Targeted regions cover all exons, exon-intron boundaries, and relevant, deep-intronic regions. Identified mutations and novel variations are confirmed by Sanger sequencing. The sensitivity of DNA sequencing is 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Multiple exon deletions, multiple exon insertions, and complete deletion of one allele may not be identified using these methods.

Citations

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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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