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 (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES movement disorders (% *)
* % 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
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 (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES movement disorders (% *)
- WES neuropathies¹ (% *)
* % 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
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 (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
* % 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
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 epilepsy (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES movement disorders (% *)
* % 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