Clinical Indication ID & Name
Diagnostic testing for known variant(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 variant testing
Optimal Family Structure
n/a
Eligibility Criteria
1. Patient clinically affected with specific disorder where:
a. the familial variant(s) have already been identified in a relative, OR
b. there is a recurrent variant for the disorder that is likely to be causative, OR
c. there is a founder variant for the disorder that is likely to be causative, OR
d. a variant 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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.