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Test: BARTH syndrome
Alternate names: TAZ / Tafazzin
Description: Barth syndrome is an X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and abnormal mitochondria. Patients present in infancy and patients usually die of heart failure in childhood. Urinary excretion of 3-methyglutaconic acid is increased while the activity of 3-methylglutaconyl coenzyme A (CoA) hydratase is normal; thus, it is sometime called "3-methylglutaconic aciduria, type 2". Mutations in the tafazzin (TAZ, previous named G4.5) gene cause Barth syndrome. The tafazzin protein shows sequence homology to a superfamily of acyltransferases involved in phospholipid metabolism. Over 40 mutations have been reported. TAZ is located at Xq28 and contains 11 exons that encode a 292 amino acid protein.
Methodology: gene sequencing
Turn around time: 3 months
Transit stability:
Sample: Blood EDTA 2 ml, dried blood spots or buccal swabs
Type: Genetics
Method: Gene sequencing
Consultant/scientist: Ms Surita Meldau
Tel: 021 404 4449
email: surita.meldau@nhls.ac.za
Contact for results: Ms Surita Meldau
Tel: 021 404 4449
email: surita.meldau@uct.ac.za
Delivery address C17 NHLS Labs, NGSH, Observatory, 7925
for samples: Cape Town