Barth syndrome

TAZ - Barth syndrome

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Barth syndrome

This product is also part of the following panels:

• Heart disorders panel¹
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Mendelian inherited disorders panel
• Metabolic disorders panel
• Mitochondrial disorders panel
• Primary immunodeficiencies panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 300394
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---