Clinical Indication ID & Name
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing
Test Group
Screening
Specialties
Test code
R403.1
Test name
N/A
Target genes
ACADM
Test scope
n/a
Test method/ technology
Single gene sequencing <10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Likely MCADD identified following neonatal screening or diagnostic metabolic testing requiring testing of the full ACADM gene
Commissioning group
Core
Overlapping idications
• R105 MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant test should be used in the first instance except where the testing laboratory specifically guides otherwise
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