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GTR Home > Tests > NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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This test detects >99% of described mutations in the analysed genes

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Formal PT program
PT ProviderHelp
European Molecular Genetics Quality Network, EMQN

FDA Regulatory Clearances of the Test

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FDA Category Designation
FDA exercises enforcement discretion

Practice guidelines

  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Decreased Citrulline, 2022
  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased Citrulline, 2022
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Carbamoyl Phosphate Synthetase I (CPS I) Deficiency, 2012

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