Complex (oxphos) deficiency, combined

AIFM1 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES hearing impairment (including GJB2) (99.9% *)
• WES intellectual disability (99.9% *)
• WES Mendelian inherited disorders (99.9% *)
• WES mitochondrial disorders (99.9% *)
• WES neuropathies¹ (99.9% *)
• WES short stature/skeletal dysplasia (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: 300169
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 612800
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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EARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 612799
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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ELAC2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES heart disorders¹ (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: 605367
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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FARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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 movement 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: 611592
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GFM1 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES intellectual disability (100.0% *)
• WES liver disorders (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: 606639
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GFM2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 606544
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MRPL39 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 611845
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MRPS16 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 609204
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MTFMT - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 611766
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MTO1 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES heart disorders¹ (91.1% *)
• WES intellectual disability (91.1% *)
• WES Mendelian inherited disorders (91.1% *)
• WES mitochondrial disorders (91.1% *)

* % 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: 614667
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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NARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (100.0% *)
• WES hearing impairment (including GJB2) (100.0% *)
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES mitochondrial disorders (100.0% *)
• WES movement 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: 612803
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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OXA1L - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• 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: 601066
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 612036
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PET112 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 603645
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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RMND1 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES hearing impairment (including GJB2) (100.0% *)
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES mitochondrial disorders (100.0% *)
• WES renal 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: 614917
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 612805
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TRMU - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES liver disorders (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: 610230
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TSFM - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES heart disorders¹ (94.3% *)
• WES intellectual disability (94.3% *)
• WES Mendelian inherited disorders (94.3% *)
• WES mitochondrial disorders (94.3% *)

* % 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: 604723
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TUFM - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 602389
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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VARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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% *)
• WES movement 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: 612802
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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WARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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: 604733
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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YME1L1 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

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% *)
• 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: 607472
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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