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GTR Home > Tests > BTD - Biotinidase deficiency

Overview

Test order codeHelp: btd-biotinidase-deficiency

Test name

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BTD - Biotinidase deficiency

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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See website
Order URL Help: https://order.radboudumc.nl/en/products/btd-biotinidase-deficiency

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence AnalysisNext-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Biotinidase Deficiency, 2022
  • ACMG ACT, 2022
    American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet, [Absent/ Reduced Biotinidase Activity], Biotinidase Deficiency
  • ACMG Algorithm, 2022
    American College of Medical Genetics Algorithm, Biotinidase Deficiency, 2022
  • ACMG ACT Sheet, 2010
    American College of Medical Genetics ACT SHEET, Biotinidase Deficiency
  • ACMG Algorithm, 2006
    American College of Medical Genetics Algorithm, Biotinidase Deficiency, 2006
  • EuroGentest, 2012
    Clinical utility gene card for: biotinidase deficiency.

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