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

R391

Barth Syndrome

Test Group

Cardiology

Specialties

Cardiology Clinical Genetics Neonatology Paediatrics Neurology

Test code

R391.1

Test name

N/A

Target genes

TAZ

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Clear clinical and biochemical diagnosis of Barth syndrome in a male patient:
1. Some or all of cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, distinctive facial features, and history of unexplained recurrent miscarriage or stillbirths or sudden death in the
family, AND
2. Positive cardiolipin result (MLCL/CL ratio) where available; (patients may also have raised 3MGA)

Commissioning group

Highly Specialised

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