Clinical Indication ID & Name
Krabbe disease – GALC deficiency
Test Group
Metabolic
Specialties
Test code
R280.1
Test name
N/A
Target genes
GALC
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and laboratory features characteristic of Krabbe disease due to GALC deficiency
Test code
R280.2
Test name
N/A
Target genes
GALC
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and laboratory features characteristic of Krabbe disease due to GALC deficiency
Commissioning group
Highly Specialised
Overlapping idications
• R281 Krabbe disease - Saposin A deficiency should be used in individuals with clinical and laboratory features characteristic of atypical Krabbe disease due to Saposin A deficiency • It is anticipated that many specific metabolic diagnoses will be made through use of broad genomic testing via the R98 Likely inborn error of metabolism - targeted testing is not possible early in the investigative pathway and in cases with atypical features where a broader differential diagnosis is under consideration
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form