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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
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
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
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
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
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
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
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
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
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
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
