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GTR Home > Tests > Mucopolysaccharide enzyme panel

Interpretation

Sample Negative Report

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Sample Positive Report

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Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? Help
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Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
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Will the lab re-contact the ordering physician if variant interpretation changes? Help
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Research

Is research allowed on the sample after clinical testing is complete?Help
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Practice guidelines

  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, alpha-L-iduronidase deficiency with or without glycosaminoglycan (GAG) accumulation, Mucopolysaccharidosis Type 1 (MPS I), 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, MPS I: Decreased Alpha-L-Iduronidase; Elevated Dermatan and Heparan Sulfates, 2023

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