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