AARS2 - 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 Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (99.4% *)
- WES heart disorders¹ (99.4% *)
- WES Mendelian inherited disorders (99.4% *)
- WES mitochondrial disorders (99.4% *)
- WES movement disorders (99.4% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
612035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (98.8% *)
- WES intellectual disability (98.8% *)
- WES Mendelian inherited disorders (98.8% *)
- WES mitochondrial disorders (98.8% *)
- WES neuropathies (98.8% *)
- WES short stature/skeletal dysplasia (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:
300169
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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 Mendelian inherited disorders (97.7% *)
- WES mitochondrial disorders (97.7% *)
* % 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:
612799
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 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:
605367
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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 (99.4% *)
- WES liver disorders (99.4% *)
- WES Mendelian inherited disorders (99.4% *)
- WES mitochondrial disorders (99.4% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
606639
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (95.2% *)
- WES Mendelian inherited disorders (95.2% *)
- WES mitochondrial disorders (95.2% *)
* % 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:
606544
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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 (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:
609204
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 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:
611766
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 Mendelian inherited disorders (90.4% *)
- WES mitochondrial disorders (90.4% *)
* % 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:
614667
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 hearing impairment (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:
612803
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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
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 intellectual disability (98.6% *)
- WES Mendelian inherited disorders (98.6% *)
- WES mitochondrial disorders (98.6% *)
- WES renal disorders (98.6% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
614917
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (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:
612805
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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 (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:
604723
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (99.0% *)
- WES mitochondrial disorders (99.0% *)
* % 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
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 Mendelian inherited disorders (99.4% *)
- WES mitochondrial disorders (99.4% *)
- WES movement disorders (99.4% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
612802
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (99.4% *)
- WES Mendelian inherited disorders (99.4% *)
- WES mitochondrial disorders (99.4% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604733
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (95.2% *)
- WES Mendelian inherited disorders (95.2% *)
- WES mitochondrial disorders (95.2% *)
- WES vision disorders (95.2% *)
* % 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:
607472
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
