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 heart disorders¹ (99.8% **)
  • WES Mendelian inherited disorders (99.8% **)
  • WES mitochondrial disorders (99.8% **)
  • WES movement 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: 612035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

AARS2 - Combined oxidative phosphorylation deficiency

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

AARS2 - Combined oxidative phosphorylation deficiency



€ 725
Gene

AIFM1 - Combined oxidative phosphorylation deficiency

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

AIFM1 - Combined oxidative phosphorylation deficiency



€ 725

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 (96.7% **)
  • WES intellectual disability (96.7% **)
  • WES Mendelian inherited disorders (96.7% **)
  • WES mitochondrial disorders (96.7% **)
  • WES neuropathies (HMSN)¹ (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: 300169
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

CARS2 - Combined oxidative phosphorylation deficiency

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

CARS2 - Combined oxidative phosphorylation deficiency



€ 725

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




€ 725
Gene

EARS2 - Combined oxidative phosphorylation deficiency

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

EARS2 - Combined oxidative phosphorylation deficiency



€ 725

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 (97.8% **)
  • WES mitochondrial disorders (97.8% **)

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




€ 725
Gene

ELAC2 - Combined oxidative phosphorylation deficiency

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

ELAC2 - Combined oxidative phosphorylation deficiency



€ 725

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 (99.0% **)
  • 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: 605367
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

FARS2 - Combined oxidative phosphorylation deficiency

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

FARS2 - Combined oxidative phosphorylation deficiency



€ 725

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 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




€ 725
Gene

GFM1 - Combined oxidative phosphorylation deficiency

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

GFM1 - Combined oxidative phosphorylation deficiency



€ 725

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 (99.0% **)
  • 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: 606639
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

GFM2 - Combined oxidative phosphorylation deficiency

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

GFM2 - Combined oxidative phosphorylation deficiency



€ 725

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 intellectual disability (95.6% **)
  • WES Mendelian inherited disorders (95.6% **)
  • WES mitochondrial disorders (95.6% **)

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




€ 725
Gene

MRPL39 - Combined oxidative phosphorylation deficiency

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

MRPL39 - Combined oxidative phosphorylation deficiency



€ 725

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




€ 725
Gene

MRPS16 - Combined oxidative phosphorylation deficiency

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

MRPS16 - Combined oxidative phosphorylation deficiency



€ 725

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




€ 725
Gene

MTFMT - Combined oxidative phosphorylation deficiency

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

MTFMT - Combined oxidative phosphorylation deficiency



€ 725

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




€ 725
Gene

MTO1 - Combined oxidative phosphorylation deficiency

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

MTO1 - Combined oxidative phosphorylation deficiency



€ 725

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 (89.6% **)
  • WES mitochondrial disorders (89.6% **)

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




€ 725
Gene

NARS2 - Combined oxidative phosphorylation deficiency

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

NARS2 - Combined oxidative phosphorylation deficiency



€ 725

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 (97.2% **)
  • WES intellectual disability (97.2% **)
  • WES Mendelian inherited disorders (97.2% **)
  • WES mitochondrial disorders (97.2% **)

** % 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: 612803
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

OXA1L - Combined oxidative phosphorylation deficiency

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

OXA1L - Combined oxidative phosphorylation deficiency



€ 725

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




€ 725
Gene

PARS2 - Combined oxidative phosphorylation deficiency

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

PARS2 - Combined oxidative phosphorylation deficiency



€ 725

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 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




€ 725
Gene

PET112 - Combined oxidative phosphorylation deficiency

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

PET112 - Combined oxidative phosphorylation deficiency



€ 725

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




€ 725
Gene

RMND1 - Combined oxidative phosphorylation deficiency

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

RMND1 - Combined oxidative phosphorylation deficiency



€ 725

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 (99.0% **)
  • WES Mendelian inherited disorders (99.0% **)
  • WES mitochondrial disorders (99.0% **)
  • WES renal 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: 614917
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TARS2 - Combined oxidative phosphorylation deficiency

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

TARS2 - Combined oxidative phosphorylation deficiency



€ 725

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 (96.4% **)
  • WES mitochondrial disorders (96.4% **)

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




€ 725
Gene

TRMU - Combined oxidative phosphorylation deficiency

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

TRMU - Combined oxidative phosphorylation deficiency



€ 725

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 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: 610230
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TSFM - Combined oxidative phosphorylation deficiency

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

TSFM - Combined oxidative phosphorylation deficiency



€ 725

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 (99.2% **)
  • 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: 604723
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TUFM - Combined oxidative phosphorylation deficiency

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

TUFM - Combined oxidative phosphorylation deficiency



€ 725

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 (99.2% **)
  • 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: 602389
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

VARS2 - Combined oxidative phosphorylation deficiency

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

VARS2 - Combined oxidative phosphorylation deficiency



€ 725

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 (99.8% **)
  • 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: 612802
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

WARS2 - Combined oxidative phosphorylation deficiency

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

WARS2 - Combined oxidative phosphorylation deficiency



€ 725

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 (99.1% **)
  • 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: 604733
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

YME1L1 - Combined oxidative phosphorylation deficiency

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

YME1L1 - Combined oxidative phosphorylation deficiency



€ 725

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 (93.5% **)
  • WES Mendelian inherited disorders (93.5% **)
  • WES mitochondrial disorders (93.5% **)
  • WES vision disorders (93.5% **)

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




€ 725