Thiamine metabolism dysfunction syndrome

SLC19A3 - thiamine metabolism dysfunction syndrome type 2

This test is available for the following conditions:

• Conditions > Metabolic disorders > Thiamine metabolism dysfunction syndrome
• Conditions > Neurological > Thiamine metabolism dysfunction syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Movement disorders panel

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

Method

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

OMIM: 606152
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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