Clinical Indication ID & Name
Diagnostic testing for known mutation(s)
Test Group
Core/Specialised
Specialties
Test code
R240.1
Test name
N/A
Target genes
Specific Target
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
1. Patient clinically affected with specific disorder where:
a. the familial mutation(s) have already been identified in a relative, OR
b. there is a recurrent mutation for the disorder that is likely to be causative, OR
c. there is a founder mutation for the disorder that is likely to be causative, OR
d. a mutation has been identified in the patient during somatic testing that is likely to be causative
2. Molecular confirmation of the diagnosis is required to guide management
This indication is relevant for prenatal and postnatal diagnosis
Commissioning group
Core/Specialised
Overlapping idications
n/a
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