COA1 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- 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:
614769
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COA3 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- WES Mendelian inherited disorders (% *)
- WES mitochondrial 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:
614775
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COA6 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- 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:
614772
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COX10 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- 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:
602125
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COX14 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- 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:
614478
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COX15 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (% *)
- WES heart disorders¹ (% *)
- 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:
603646
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCO1 - Mitochondrial complex IV deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES liver disorders (% *)
- 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:
603644
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SURF1 - Mitochondrial complex IV deficiency (Leigh syndrome)
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex IV deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial 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:
185620
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane