Methylmalonic aciduria and homocystinuria

MMACHC - Methylmalonic aciduria and homocystinuria type cbIC

This test is available for the following conditions:

• Conditions > Metabolic disorders > Methylmalonic aciduria and homocystinuria

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Renal disorders panel
• Skin disorders panel¹

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

Method

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

OMIM: 609831
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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