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GTR Home > Tests > GALC Gene Common 30-kb Deletion Detection, Krabbe Disease

Overview

Test order codeHelp: KDGALCCD

Test name

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GALC Gene Common 30-kb Deletion Detection, Krabbe Disease (GALC Common Deletion)

Purpose of the test

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

Condition

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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
PCR

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Reproductive decision-making

Clinical validity

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This assay tests for the most common pathogenic variant in the GALC gene seen in patients with Krabbe disease, which is the 30-kb deletion involving exons 11 through 17. This deletion accounts for about 45% of the pathogenic alleles in European ancestry population and about 35% of the pathogenic alleles in Mexican ancestry population.

Citations

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Testing strategy

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Reflex or concurrent GALC gene sequencing test available. 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.

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