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GTR Home > Tests > CentoLSD MOx

Methodology

Methodology

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Biochemical Genetics
AAnalyte
Gas chromatography–mass spectrometry (GC-MS)
  • NimbleGen CGH 3-plex ISCA Plus Cytogenetic Array
Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • NimbleGen CGH 3-plex ISCA Plus Cytogenetic Array
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • NimbleGen CGH 3-plex ISCA Plus Cytogenetic Array

Test development

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Test developed by laboratory (no manufacturer test name)

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Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022
  • ACMG ACT, 2011
    American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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