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PGK1 - Phosphoglycerate kinase 1 deficiency

This test is available for the following conditions:

Conditions > Metabolic disorders > Phosphoglycerate kinase 1 deficiency

This product is also part of the following panels:

Intellectual disability panel
Mendelian inherited disorders panel
Metabolic disorders panel
Muscle disorders panel
Vision 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: 311800
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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Phosphoglycerate kinase 1 deficiency

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Gene

PGK1 - Phosphoglycerate kinase 1 deficiency

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

Performing laboratory
Radboudumc

€ 725

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PGK1 - Phosphoglycerate kinase 1 deficiency

GEN

complete analysis

targeted analysis of a familial mutation

€ 725

Add Update Remove

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