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GTR Home > Tests > Glutaric Acidemia Type I: GCDH Sequencing

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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Sequence method detects 99% of sequence variants

Citations

Not provided

Proficiency Testing (PT)

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

FDA Regulatory Clearances of the Test

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Not provided

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-DC Acylcarnitine, Glutaric Acidemia Type I (GA I), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia Type I (GA I): Elevated C5-DC, 2022

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