Krabbe Disease

Introduction

Krabbe Disease is an autosomal recessive inherited disorder affecting myelin in the peripheral and central nervous system. Although the most common form of the disease is the classic fatal severe infantile form (classic Krabbe disease), later onset forms have also been described and up patients up to 50 years have been diagnosed.All patients are deficient in galactocerebrosidase,(GALC) the lysosomal enzyme responsible for the hydrolysis of important glycolipids Assays of GALC activity in leukocytes or cultured fibroblasts with use of appropriate natural glycolipid substrates can establish a diagnosis. . One mutation a 30kb deletion makes up over 50% of mutant alleles in patients from most of northern Europe.

Referral information

We accept referrals from patients with Krabbe disease ie. have a biochemically measured deficiency of galactocerebrosidase also parents and siblings of the index case for carrier testing .NB  Whole gene screening for GALC is not available in this laboratory.

Price & reporting times

NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. This service is free for NCG patients (including relatives for carrier testing) diagnosed biochemically in the Willink Metabolic Unit.

Test Price (NHS) Price (non-NHS) TRT (calendar days)
Single mutation test POA POA 28

Test validation & quality assurance - information for users

The common 30kb deletion is found in over 50% of mutant alleles in patients with Krabbe Disease in Northern Europe.

Sample requirements

5ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 252200

Gene(s) - GALC

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