Clinical Indication ID & Name
NIPD for Duchenne and Becker muscular dystrophy - haplotype testing
Test Group
NIPD
Specialties
Test code
R310.1
Test name
N/A
Target genes
Dystrophin
Test scope
Haplotype testing
Test method/ technology
NIPD
Optimal Family Structure
n/a
Eligibility Criteria
Pregnancy at risk of Duchenne or Becker muscular dystrophy due to known variant for which NIPD by variant testing is required following discussion with testing laboratory
Samples should be available from additional family members to permit testing. Please discuss with the testing laboratory.
Testing may not be possible in multiple pregnancies. In such cases contact the laboratory for discussion
Where in Pathway
Testing performed after 8 weeks in pregnancy as confirmed by dating scan, and following a NIPD fetal sexing result that together indicate a single XY fetus
Commissioning group
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