Complex I deficiency

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:

• Comprehensive preconception carrier test panel¹
• Heart disorders panel¹
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Mitochondrial disorders panel

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

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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:

• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Vision disorders panel

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

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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

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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:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Polyneuropathies panel¹

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

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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:

• Comprehensive preconception carrier test panel¹
• Congenital heartdisease panel¹
• Epilepsy panel
• Heart disorders panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Vision disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Heart disorders panel¹
• Iron disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Skin disorders panel¹
• Vision disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Vision disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Vision disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Polyneuropathies panel¹

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

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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:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Movement disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel

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

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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:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Mitochondrial disorders panel

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

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