Clinical Indication ID & Name
Barth Syndrome
Test Group
Cardiology
Specialties
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
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