ACAD9 - Mitochondrial complex I deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES metabolic disorders (99.9% *)
- WES mitochondrial disorders (99.9% *)
* % 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:
611103
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ECSIT - OXPHOS deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES Mendelian inherited disorders (99.9% *)
- WES mitochondrial disorders (99.9% *)
* % 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:
608388
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFA1 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES epilepsy (99.3% *)
- WES intellectual disability (99.3% *)
- WES Mendelian inherited disorders (99.3% *)
- WES mitochondrial disorders (99.3% *)
* % 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:
300078
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFA10 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (98.6% *)
- WES mitochondrial disorders (98.6% *)
* % 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:
603835
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFA11 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
* % 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:
612638
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFA12 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
* % 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:
614530
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFA12L - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
609653
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFA9 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (96.5% *)
- WES mitochondrial disorders (96.5% *)
- WES neuropathies (96.5% *)
* % 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:
603834
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFAF1 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
* % 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:
606934
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFAF3 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES mitochondrial disorders (99.9% *)
* % 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:
612911
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFAF4 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (98.2% *)
- WES Mendelian inherited disorders (98.2% *)
- WES mitochondrial disorders (98.2% *)
* % 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:
611776
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFAF5 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (99.5% *)
- WES intellectual disability (99.5% *)
- WES Mendelian inherited disorders (99.5% *)
- WES mitochondrial 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:
612360
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFAF6 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (96.8% *)
- WES mitochondrial disorders (96.8% *)
* % 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:
612392
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFB11 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES iron disorders (96.5% *)
- WES Mendelian inherited disorders (96.5% *)
- WES mitochondrial disorders (96.5% *)
- WES skin disorders¹ (96.5% *)
* % 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:
300403
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFB3 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (80.5% *)
- WES Mendelian inherited disorders (80.5% *)
- WES mitochondrial disorders (80.5% *)
* % 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:
603839
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFB9 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (92.5% *)
- WES Mendelian inherited disorders (92.5% *)
- WES mitochondrial disorders (92.5% *)
* % 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:
601445
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFS1 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (99.5% *)
- WES intellectual disability (99.5% *)
- WES Mendelian inherited disorders (99.5% *)
- WES mitochondrial 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:
157655
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFS2 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
602985
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFS3 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (90.6% *)
- WES intellectual disability (90.6% *)
- WES Mendelian inherited disorders (90.6% *)
- WES mitochondrial disorders (90.6% *)
* % 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:
603846
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFS4 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (99.4% *)
- WES intellectual disability (99.4% *)
- WES Mendelian inherited disorders (99.4% *)
- WES mitochondrial disorders (99.4% *)
* % 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:
602694
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFS6 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES mitochondrial disorders (99.9% *)
* % 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:
603848
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFS7 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (99.2% *)
- WES Mendelian inherited disorders (99.2% *)
- WES mitochondrial 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:
601825
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFS8 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (99.4% *)
- WES Mendelian inherited disorders (99.4% *)
- WES mitochondrial disorders (99.4% *)
* % 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:
602141
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFV1 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (96.1% *)
- WES intellectual disability (96.1% *)
- WES Mendelian inherited disorders (96.1% *)
- WES mitochondrial disorders (96.1% *)
* % 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:
161015
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDUFV2 - Mitochondrial complex I deficiëncy
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (76.9% *)
- WES intellectual disability (76.9% *)
- WES Mendelian inherited disorders (76.9% *)
- WES mitochondrial disorders (76.9% *)
* % 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:
600532
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NUBPL - Mitochondrial complex I deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (98.4% *)
- WES intellectual disability (98.4% *)
- WES Mendelian inherited disorders (98.4% *)
- WES mitochondrial disorders (98.4% *)
* % 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:
613621
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TIMMDC1 - Mitochondrial complex I deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
* % 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:
615534
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TMEM126B - Mitochondrial complex I deficiëntie
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (97.4% *)
- WES mitochondrial disorders (97.4% *)
* % 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:
615533
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TMEM70 - Mitochondrial complex V (and complex I) deficiency
This test is available for the following conditions:
- Conditions > Mitochondrial disorders > Complex I deficiency
- Conditions > Mitochondrial disorders > Complex V deficiency
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (93.9% *)
- WES Mendelian inherited disorders (93.9% *)
- WES metabolic disorders (93.9% *)
- WES mitochondrial disorders (93.9% *)
* % 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:
612418
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
