U.S. flag

An official website of the United States government

GTR Home > Tests > GALC Gene Sequencing

Overview

Test order codeHelp: KDGALCSEQ

Test name

Help

GALC Gene Sequencing (GALC Sequencing)

Purpose of the test

Help

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

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

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

Help
Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Reproductive decision-making

Clinical validity

Help

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

Help

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.

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, elevated psychosine, Krabbe Disease (infantile form), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Krabbe disease: galactocerebrosidase deficiency, 2022
  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, mildly elevated psychosine, Krabbe Disease (late-onset form), 2022
  • AAP, 2021
    Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

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.