SLC25A4 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Muscle disorders panel

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

Method

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

OMIM: 103220
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

C10ORF2 - Mitochondrial DNA depletion syndrome

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

C10ORF2 - Mitochondrial DNA depletion syndrome



€ 725

C10ORF2 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

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

Method

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

OMIM: 606075
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

DGUOK - Mitochondrial DNA depletion syndrome

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

DGUOK - Mitochondrial DNA depletion syndrome



€ 725

DGUOK - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Muscle disorders panel

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

Method

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

OMIM: 601465
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

FBXL4 - Mitochondrial DNA depletion syndrome

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

FBXL4 - Mitochondrial DNA depletion syndrome



€ 725

FBXL4 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel

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

Method

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

OMIM: 605654
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

MPV17 - mitochondrial DNA depletion syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc & Maastricht UMC+
€ 725

MPV17 - mitochondrial DNA depletion syndrome



€ 725

MPV17 - mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Neuropathies panel¹

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

Method

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

OMIM: 137960
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

POLG - Mitochondrial DNA depletion syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc & Maastricht UMC+
€ 725

POLG - Mitochondrial DNA depletion syndrome



€ 725

POLG - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Epilepsy panel
  • Hypogonadotropic hypogonadism (Kallmann) panel
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Movement disorders panel
  • Muscle disorders panel
  • Neuropathies panel¹
  • Parkinson disease panel
  • Premature ovarian insufficiency panel

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

Method

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

OMIM: 174763
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

RRM2B - Mitochondrial DNA depletion syndrome

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

RRM2B - Mitochondrial DNA depletion syndrome



€ 725

RRM2B - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Hearing impairment panel (including GJB2)
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Muscle disorders panel
  • Renal disorders panel

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

Method

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

OMIM: 604712
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SLC25A4 - Mitochondrial DNA depletion syndrome

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

SLC25A4 - Mitochondrial DNA depletion syndrome



€ 725
Gene

SUCLA2 - Mitochondrial DNA depletion syndrome

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

SUCLA2 - Mitochondrial DNA depletion syndrome



€ 725

SUCLA2 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Muscle disorders panel

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

Method

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

OMIM: 603921
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SUCLG1 - Mitochondrial DNA depletion syndrome

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

SUCLG1 - Mitochondrial DNA depletion syndrome



€ 725

SUCLG1 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel

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

Method

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

OMIM: 611224
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SUCLG2 - Mitochondrial DNA depletion syndrome

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

SUCLG2 - Mitochondrial DNA depletion syndrome



€ 725

SUCLG2 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Hereditary cancer panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel

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

Method

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

OMIM: 603922
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TK2 - Mitochondrial DNA depletion syndrome

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

TK2 - Mitochondrial DNA depletion syndrome



€ 725

TK2 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Muscle disorders panel

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

Method

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

OMIM: 188250
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TYMP - Mitochondrial DNA depletion syndrome (MNGIE)

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

TYMP - Mitochondrial DNA depletion syndrome (MNGIE)



€ 725

TYMP - Mitochondrial DNA depletion syndrome (MNGIE)

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial DNA depletion syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Neuropathies panel¹

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

Method

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

OMIM: 131222
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725