Order or find a test

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

Clinical Indication ID & Name

R391

Barth Syndrome

Test Group

Cardiology

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

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Contact with queries

geneticslab@rbht.nhs.uk

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/

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