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:

• WES comprehensive preconception carrier test ¹
• WES heart disorders¹ (98.8% **)
• WES intellectual disability (98.8% **)
• WES Mendelian inherited disorders (98.8% **)
• WES metabolic disorders (98.8% **)
• WES mitochondrial disorders (98.8% **)

** % 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: 611103
Performing laboratory: Radboudumc
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:

• 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: 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:

• WES epilepsy (98.7% **)
• WES intellectual disability (98.7% **)
• WES Mendelian inherited disorders (98.7% **)
• WES mitochondrial disorders (98.7% **)

** % 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

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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:

• WES comprehensive preconception carrier test ¹
• 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: 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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (98.5% **)
• WES intellectual disability (98.5% **)
• WES Mendelian inherited disorders (98.5% **)
• WES mitochondrial disorders (98.5% **)

** % 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: 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:

• WES comprehensive preconception carrier test ¹
• 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: 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:

• WES comprehensive preconception carrier test 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: 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:

• 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

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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:

• 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

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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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (93.8% **)
• WES Mendelian inherited disorders (93.8% **)
• WES mitochondrial disorders (93.8% **)

** % 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: 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:

• WES comprehensive preconception carrier test ¹
• 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: 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:

• WES comprehensive preconception carrier test ¹
• WES Mendelian inherited disorders (98.9% **)
• WES mitochondrial disorders (98.9% **)

** % 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: 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:

• WES comprehensive preconception carrier test ¹
• WES iron disorders (96.2% **)
• WES Mendelian inherited disorders (96.2% **)
• WES mitochondrial disorders (96.2% **)
• WES skin disorders¹ (96.2% **)

** % 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: 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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (61.0% **)
• WES Mendelian inherited disorders (61.0% **)
• WES mitochondrial disorders (61.0% **)

** % 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: 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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (94.1% **)
• WES Mendelian inherited disorders (94.1% **)
• WES mitochondrial disorders (94.1% **)

** % 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: 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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (99.7% **)
• WES intellectual disability (99.7% **)
• WES Mendelian inherited disorders (99.7% **)
• WES mitochondrial disorders (99.7% **)

** % 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

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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:

• 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% **)
• WES vision 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: 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:

• 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

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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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (99.6% **)
• WES intellectual disability (99.6% **)
• WES Mendelian inherited disorders (99.6% **)
• WES mitochondrial disorders (99.6% **)

** % 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: 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:

• 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: 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:

• 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: 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:

• 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: 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:

• 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: 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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (77.9% **)
• WES intellectual disability (77.9% **)
• WES Mendelian inherited disorders (77.9% **)
• WES mitochondrial disorders (77.9% **)

** % 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

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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:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (94.2% **)
• WES intellectual disability (94.2% **)
• WES Mendelian inherited disorders (94.2% **)
• WES mitochondrial disorders (94.2% **)

** % 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: 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:

• 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

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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:

• WES comprehensive preconception carrier test ¹
• WES Mendelian inherited disorders (96.7% **)
• WES mitochondrial disorders (96.7% **)

** % 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

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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:

• WES comprehensive preconception carrier test ¹
• WES intellectual disability (98.5% **)
• WES Mendelian inherited disorders (98.5% **)
• WES metabolic disorders (98.5% **)
• WES mitochondrial disorders (98.5% **)

** % 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: 612418
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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