PDHA1 - Pyruvate dehydrogenase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase deficiency

This product is also part of the following panels:

  • WES epilepsy (95.4% **)
  • WES intellectual disability (95.4% **)
  • WES Mendelian inherited disorders (95.4% **)
  • WES mitochondrial disorders (95.4% **)
  • WES movement disorders (95.4% **)

** % 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: 300502
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

DLAT - Pyruvate dehydrogenase deficiency

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

DLAT - Pyruvate dehydrogenase deficiency



€ 725

DLAT - Pyruvate dehydrogenase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase deficiency

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES epilepsy (99.2% **)
  • WES Mendelian inherited disorders (99.2% **)
  • WES mitochondrial disorders (99.2% **)
  • WES movement disorders (99.2% **)

** % 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: 608770
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PDHA1 - Pyruvate dehydrogenase deficiency

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

PDHA1 - Pyruvate dehydrogenase deficiency



€ 725
Gene

PDHB - Pyruvate dehydrogenase deficiency

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

PDHB - Pyruvate dehydrogenase deficiency



€ 725

PDHB - Pyruvate dehydrogenase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase deficiency

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES epilepsy (97.2% **)
  • WES Mendelian inherited disorders (97.2% **)
  • WES mitochondrial disorders (97.2% **)

** % 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: 179060
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PDHX - Lacticacidemia due to PDX1 deficiency

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

PDHX - Lacticacidemia due to PDX1 deficiency



€ 725

PDHX - Lacticacidemia due to PDX1 deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase deficiency

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.5% **)
  • WES Mendelian inherited disorders (99.5% **)
  • WES mitochondrial disorders (99.5% **)
  • WES movement disorders (99.5% **)

** % 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: 608769
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725