Gene

ACAD9 - Mitochondrial complex I deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ACAD9 - Mitochondrial complex I deficiency



€ 725

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 (99.1% **)
  • WES intellectual disability (99.1% **)
  • WES Mendelian inherited disorders (99.1% **)
  • WES metabolic disorders (99.1% **)
  • WES mitochondrial disorders (99.1% **)

** % 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: 611103
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ECSIT - OXPHOS deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ECSIT - OXPHOS deficiency



€ 725

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




€ 725
Gene

NDUFA1 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFA1 - Mitochondrial complex I deficiëncy



€ 725

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 (99.2% **)
  • 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: 300078
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFA10 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFA10 - Mitochondrial complex I deficiëncy



€ 725

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 (98.9% **)
  • 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: 603835
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFA11 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFA11 - Mitochondrial complex I deficiëncy



€ 725

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 (97.4% **)
  • WES intellectual disability (97.4% **)
  • 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: 612638
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFA12 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFA12 - Mitochondrial complex I deficiëncy



€ 725

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




€ 725
Gene

NDUFA12L - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFA12L - Mitochondrial complex I deficiëncy



€ 725

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




€ 725
Gene

NDUFA2 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFA2 - Mitochondrial complex I deficiëncy



€ 725

NDUFA2 - 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 (99.6% **)
  • 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: 602137
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFA9 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFA9 - Mitochondrial complex I deficiëncy



€ 725

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% **)

** % 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




€ 725
Gene

NDUFAF1 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFAF1 - Mitochondrial complex I deficiëncy



€ 725

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 (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: 606934
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFAF3 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFAF3 - Mitochondrial complex I deficiëncy



€ 725

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




€ 725
Gene

NDUFAF4 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFAF4 - Mitochondrial complex I deficiëncy



€ 725

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 (94.5% **)
  • WES Mendelian inherited disorders (94.5% **)
  • WES mitochondrial disorders (94.5% **)

** % 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: 611776
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFAF5 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFAF5 - Mitochondrial complex I deficiëncy



€ 725

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 (99.1% **)
  • WES intellectual disability (99.1% **)
  • WES Mendelian inherited disorders (99.1% **)
  • WES mitochondrial disorders (99.1% **)

** % 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: 612360
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFAF6 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFAF6 - Mitochondrial complex I deficiëncy



€ 725

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 (98.5% **)
  • 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: 612392
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFB11 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFB11 - Mitochondrial complex I deficiëncy



€ 725

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 (95.0% **)
  • WES Mendelian inherited disorders (95.0% **)
  • WES mitochondrial disorders (95.0% **)
  • WES skin disorders¹ (95.0% **)

** % 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: 300403
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFB3 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFB3 - Mitochondrial complex I deficiëncy



€ 725

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 (62.5% **)
  • WES Mendelian inherited disorders (62.5% **)
  • WES mitochondrial disorders (62.5% **)

** % 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




€ 725
Gene

NDUFB9 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFB9 - Mitochondrial complex I deficiëncy



€ 725

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 (93.3% **)
  • WES Mendelian inherited disorders (93.3% **)
  • WES mitochondrial disorders (93.3% **)

** % 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: 601445
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFS1 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFS1 - Mitochondrial complex I deficiëncy



€ 725

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 (99.8% **)
  • WES intellectual disability (99.8% **)
  • WES Mendelian inherited disorders (99.8% **)
  • WES mitochondrial disorders (99.8% **)

** % 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: 157655
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFS2 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFS2 - Mitochondrial complex I deficiëncy



€ 725

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




€ 725
Gene

NDUFS3 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFS3 - Mitochondrial complex I deficiëncy



€ 725

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 (90.5% **)
  • WES intellectual disability (90.5% **)
  • WES Mendelian inherited disorders (90.5% **)
  • WES mitochondrial disorders (90.5% **)

** % 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: 603846
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFS4 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFS4 - Mitochondrial complex I deficiëncy



€ 725

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 (99.7% **)
  • 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: 602694
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFS6 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFS6 - Mitochondrial complex I deficiëncy



€ 725

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




€ 725
Gene

NDUFS7 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFS7 - Mitochondrial complex I deficiëncy



€ 725

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 (99.9% **)
  • 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: 601825
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFS8 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFS8 - Mitochondrial complex I deficiëncy



€ 725

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 (99.7% **)
  • 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: 602141
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFV1 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFV1 - Mitochondrial complex I deficiëncy



€ 725

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 (98.8% **)
  • WES intellectual disability (98.8% **)
  • WES Mendelian inherited 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: 161015
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NDUFV2 - Mitochondrial complex I deficiëncy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NDUFV2 - Mitochondrial complex I deficiëncy



€ 725

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 (77.3% **)
  • WES intellectual disability (77.3% **)
  • WES Mendelian inherited disorders (77.3% **)
  • WES mitochondrial disorders (77.3% **)

** % 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: 600532
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NUBPL - Mitochondrial complex I deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NUBPL - Mitochondrial complex I deficiency



€ 725

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 (95.5% **)
  • WES intellectual disability (95.5% **)
  • WES Mendelian inherited disorders (95.5% **)
  • WES mitochondrial disorders (95.5% **)

** % 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: 613621
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TIMMDC1 - Mitochondrial complex I deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

TIMMDC1 - Mitochondrial complex I deficiency



€ 725

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




€ 725
Gene

TMEM126B - Mitochondrial complex I deficiëntie

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

TMEM126B - Mitochondrial complex I deficiëntie



€ 725

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 (95.9% **)
  • WES mitochondrial disorders (95.9% **)

** % 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: 615533
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TMEM70 - Mitochondrial complex V (and complex I) deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

TMEM70 - Mitochondrial complex V (and complex I) deficiency



€ 725

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 (97.6% **)
  • WES Mendelian inherited disorders (97.6% **)
  • WES metabolic disorders (97.6% **)
  • WES mitochondrial disorders (97.6% **)

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




€ 725