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
n/a
Test method/ technology
NIPD
Optimal Family Structure
n/a
Eligibility Criteria
Pregnancy at risk of Duchenne or Becker muscular dystrophy due to known mutation for which NIPD by mutation 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
Commissioning group
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