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GTR Home > Tests > GALC Gene Sequencing

Overview

Test order codeHelp: KDGALCSEQ

Test name

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GALC Gene Sequencing (GALC Sequencing)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Risk Assessment

Condition

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Click Indication tab for more information.

How to order

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Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL Help: https://www.nationwidechildrens.org/specialties/laboratory-services

Specimen source

Cord blood
Fetal blood
Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Reproductive decision-making

Clinical validity

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This test sequences the entire coding regions of the GALC gene by Sanger sequencing method. About 55-65% of patients with Krabbe disease have a pathogenic variant detectable by GALC gene sequencing.

Citations

Not provided

Testing strategy

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Concurrent testing available for GALC gene common 30-kb deletion detection for probands suspected to have Krabbe disease. 000 Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.

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.