Barth Syndrome
Gene: TAZ (also known as TAFAZZIN)
Protein: tafazzin
Clinical Characteristics
- Affects males
- Cardiomyopathy
- Neutropenia
- Growth delay
- 3-Methylglutaconic aciduria
- Muscle weakness and fatigue
- Cardiolipin deficiency
Inheritance pattern: X-linked
What Can Be Learned From This Test
Testing is performed by sequencing of the entire coding region of the TAZ gene. This will detect point mutations, small deletions and small insertions. For females, the assay will not detect a partial or whole gene deletion. For males, a partial or whole gene deletion may appear as failure to amplify a region of the gene.
TAZ is the only gene known to be associated with Barth syndrome. Mutations will be detected by this assay in greater than 99% of individuals who fit the clinical description of Barth syndrome.
Sample Requirements
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10 -14 business days
CPT Codes and Cost
Full Gene Sequencing
- Code: 81406
- Cost: $650
Known Variant Testing
- Code: 81479
- Cost: $225
Additional Information
- from the Barth Syndrome Foundation