Clinical Indication ID & Name
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant
Test Group
Screening
Specialties
Test code
R105.1
Test name
N/A
Target genes
ACADM common pathogenic variants
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Likely MCADD identified following neonatal screening or diagnostic metabolic testing requiring testing of the common ACADM c.985G>A variant
Testing following newborn screening should follow the established sample and testing pathways set out in the newborn screening protocol
Commissioning group
Newborn Screening
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