Clinical Indication ID & Name
Niemann Pick disease type C
Test Group
Metabolic
Specialties
Test code
R380.1
Test name
N/A
Target genes
NPC1;NPC2
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and laboratory features characteristic of Niemann-Pick disease type C
Test code
R380.2
Test name
N/A
Target genes
NPC1;NPC2
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and laboratory features characteristic of Niemann-Pick disease type C
Commissioning group
Highly Specialised
Overlapping idications
• 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
Rare Disese WGS Clinician pack
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