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GTR Home > Tests > Glutaric acidemia type 1

Overview

Test order codeHelp: GCDH

Test name

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Glutaric acidemia type 1 (GCDH)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Contact the laboratory directly for specific arrangements.

Specimen source

Amniocytes
Amniotic fluid
Buffy coat
Cell culture
Fibroblasts
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Skin

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Uni-directional Sanger sequencing

Summary of what is tested

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Clinical utility

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Where indicated by Urine Organic Acid results

Establish or confirm diagnosis

Clinical validity

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Not provided

Testing strategy

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Full gene sequencing, unless family or population specific mutations known 000 Contact the laboratory directly for specific arrangements.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.