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PCK2 - Mitochondrial PEPCK deficiency

This test is available for the following conditions:

Conditions > Mitochondrial disorders > Mitochondrial PEPCK deficiency

This product is also part of the following panels:

Comprehensive preconception carrier test 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: 614095
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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- Wijzig taal in Nederlands ( NL )

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- Radboudumc & MaasrichtUMC+

Mitochondrial PEPCK deficiency

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Gene

PCK2 - Mitochondrial PEPCK deficiency

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

Performing laboratory
Radboudumc

€ 725

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PCK2 - Mitochondrial PEPCK deficiency

GEN

complete analysis

targeted analysis of a familial mutation

€ 725

Add Update Remove

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