Clinical Indication ID & Name
Krabbe disease - Saposin A deficiency
Test Group
Metabolic
Specialties
Test code
R281.1
Test name
N/A
Target genes
PSAP
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 atypical Krabbe disease due to Saposin A deficiency
Commissioning group
Highly Specialised
Overlapping idications
• R280 Krabbe disease – GALC deficiency should be used in individuals with clinical and laboratory features characteristic of atypical Krabbe disease due to GALC 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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old