Pyruvate dehydrogenase phosphatase deficiency

PDP1 - Pyruvate dehydrogenase phosphatase deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Pyruvate dehydrogenase phosphatase deficiency

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial 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: 605993
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PDPR - Pyruvaat dehydrogenase phosphatase deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Pyruvate dehydrogenase phosphatase deficiency

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

Method

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

OMIM: 617835
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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