GTR Home > Tests > Fatty acid metabolism/ketogenesis disorders

Overview

Test name

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Fatty acid metabolism/ketogenesis disorders (FAMD)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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

Summary of what is tested

19 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

Testing strategy

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Other panels are available if no mutations are found in the initial panel

How to order

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Order URL Help: https://www.sheffieldchildrens.nhs.uk/our-services/sheffield-diagnostic-genetics-service/

Test services

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  • Custom Sequence Analysis

Clinical resources

Practice guidelines

  • CDC, 2012
    Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

Consumer resources

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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