Gene: TAZ, (also known as G4.5)
Protein: tafazzin
Clinical characteristics:
- Affects males
- Cardiomyopathy
- Neutropenia
- Growth delay
- 3-Methylglutaconic aciduria
- Muscle weakness and fatigue
- Cardiolipin deficiency
Inheritance pattern: X-linked
What this test can tell us:
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 one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turn-around time: 2-3 weeks
CPT codes and cost:
Proband:
83891 (x1) 83898 (x3) 83904 (x12) 83912 (x1) $625
Carrier or known familial mutation:
83891 (x1) 83898 (x2) 83904 (x4) 83912 (x1) $185