Megaloblastic anemia syndrome

SLC19A2 - thiamine-responsive megaloblastic anemia syndrome

This test is available for the following conditions:

• Conditions > Hearing impairment > Megaloblastic anemia syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hearing impairment panel (including GJB2)
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Iron disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial 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: 603941
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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