Clinical Indication ID & Name
Neuronal ceroid lipofuscinosis
Test Group
Metabolic
Specialties
Test code
R231.1
Test name
N/A
Target genes
CLN3
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and laboratory features characteristic of Neuronal ceroid lipofuscinosis including presence of vacuolate lymphocytes, presence of pathological inclusions on tissue biopsy or enzyme deficiency
Test code
R231.2
Test name
N/A
Target genes
Neuronal ceroid lipofuscinosis (526)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and laboratory features characteristic of Neuronal ceroid lipofuscinosis including presence of vacuolate lymphocytes, presence of pathological inclusions on tissue biopsy or enzyme deficiency
Commissioning group
Specialised
Overlapping idications
• R271 Neuronal ceroid lipofuscinosis type 2 test should be considered where clinical features are specific to CLN2 • 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