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
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