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ACAD8 - Isobutyryl-CoA dehydrogenase deficiency

This test is available for the following conditions:

Conditions > Mitochondrial disorders > Isobutyryl-CoA dehydrogenase deficiency

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Heart disorders panel¹
Mendelian inherited disorders panel with genome wide CNV analysis
Metabolic 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: 604773
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 725

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Isobutyryl-CoA dehydrogenase deficiency

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Gene

ACAD8 - Isobutyryl-CoA dehydrogenase deficiency

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

Performing laboratory
Radboudumc

€ 725

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ACAD8 - Isobutyryl-CoA dehydrogenase deficiency

GEN

complete analysis

targeted analysis of a familial mutation

€ 725

Add Update Remove

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