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GTR Home > Tests > Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel

Methodology

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Test development

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Test developed by laboratory (no manufacturer test name)

Test procedure

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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods

Citations

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Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022
  • GMDI/SERN, 2017
    PROP Nutrition Management Guidelines

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