The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Clinical Indication ID & Name

R105

MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant

Test Group

Screening

Specialties

Clinical Genetics Neonatology Obstetrics Paediatrics

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool