GTR Home > Tests > Arginine glycine amidino transferase (AGAT) deficiency

Overview

Test order codeHelp: Arginine glycine amidino transferase (AGAT) deficiency

Test name

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Arginine glycine amidino transferase (AGAT) deficiency

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Biochemical Genetics
AAnalyte
Metabolite levels
  • Gas Chromatography mass spectrometry (GC/MS)
EEnzyme assay
Metabolite levels
  • Gas Chromatography mass spectrometry (GC/MS)
Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied biosystems 3130 capillary sequencing instrument

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://www.vumc.com/ML

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.

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