Phosphoglycerate mutase 1 deficiency

PGAM1 - Phosphoglycerate mutase 1 deficiency

This test is available for the following conditions:

• Conditions > Metabolic disorders > Phosphoglycerate mutase 1 deficiency

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

Method

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

OMIM: 172250
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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