Gene

PDP1 - Pyruvate dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PDP1 - Pyruvate dehydrogenase phosphatase deficiency



€ 725

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:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 725
Gene

PDP2 - Pyruvate dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PDP2 - Pyruvate dehydrogenase phosphatase deficiency



€ 725

PDP2 - Pyruvate 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: 615499
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PDPR - Pyruvaat dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PDPR - Pyruvaat dehydrogenase phosphatase deficiency



€ 725

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




€ 725