Clinical Indication ID & Name
R403
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form