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
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:
- WES comprehensive preconception carrier test ¹
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES mitochondrial disorders (% *)
- WES muscle disorders (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES neuropathies¹ (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
- WES epilepsy (% *)
- WES hypogonadotropic hypogonadism (Kallmann) (% *)
- WES intellectual disability (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES movement disorders (% *)
- WES muscle disorders (% *)
- WES neuropathies¹ (% *)
- WES Parkinson disease (% *)
- WES premature ovarian insufficiency (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (% *)
- WES hearing impairment (including GJB2) (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES muscle disorders (% *)
- WES renal disorders (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES muscle disorders (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES mitochondrial disorders (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES mitochondrial disorders (% *)
* % 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:
611224
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES mitochondrial disorders (% *)
- WES muscle disorders (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES mitochondrial disorders (% *)
- WES neuropathies¹ (% *)
* % 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:
131222
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane