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GTR Home > Tests > Invitae Joubert and Meckel-Gruber Syndromes Panel

Performance Characteristics

Availability

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  • Interpretation performed in-house
  • Report generated in-house
  • Specimen preparation performed in-house
  • Wet lab work performed both in-house and at an outside lab
  • Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods at an outside lab.

Analytical Validity

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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Intra-Laboratory

FDA Regulatory Clearances of the Test

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FDA Category Designation
FDA exercises enforcement discretion

New York State CLEP (NYS CLEP) Test Approval

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NYS CLEP test approval #
8884
Status
Approved

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