Belgian Genetic Tests database- Genetic tests
- Mitochondrial disorders (gene panel)
Mitochondrial disorders (gene panel)
| Full name: |
Mitochondrial disorders (gene panel)
|
| Test type: |
Clinical
|
| Test specialty: |
Molecular Genetics
|
| Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
|
| Specimen: |
Peripheral (whole) blood on EDTA,
Skin biopsy,
Liver biopsy,
Muscle biopsy,
Amniotic fluid,
Chorionic villi
|
| Method category: | |
| Method technique: | |
| Laboratory: | |
| RIZIV code: | |
| EQA: |
|
| Turnaround time (maximum): |
6 months
|
| Document(s): | |
| Created: |
26 Aug 2019 - 16:48
|
| Changed: |
09 Mar 2023 - 16:11
|
| URL: |
- Alpers-Huttenlocher syndrome
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive progressive external ophthalmoplegia
- Björnstad syndrome
- Combined oxidative phosphorylation defect type 8
- Fatal infantile cytochrome C oxidase deficiency
- Fatal infantile lactic acidosis with methylmalonic aciduria
- GRACILE syndrome
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
- Hereditary myopathy with lactic acidosis due to ISCU deficiency
- Hereditary pheochromocytoma-paraganglioma
- Isolated ATP synthase deficiency
- Isolated cytochrome C oxidase deficiency
- Isolated succinate-CoQ reductase deficiency
- Kearns-Sayre syndrome
- Leigh syndrome with cardiomyopathy
- Leigh syndrome with leukodystrophy
- Leigh syndrome with nephrotic syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Mitochondrial DNA depletion syndrome, myopathic form
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Mitochondrial neurogastrointestinal encephalomyopathy
- Multiple mitochondrial dysfunctions syndrome type 1
- Multiple mitochondrial dysfunctions syndrome type 2
- Navajo neurohepatopathy
- Pyruvate dehydrogenase E1-alpha deficiency
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Thiamine-responsive encephalopathy
- AARS2
- ABAT
- ABCB7
- ACAD9
- ACO2
- ADPRS
- AFG2A
- AFG3L2
- AGK
- AIFM1
- ALDH1B1
- ANO10
- APTX
- ATAD3A
- ATAD3B
- ATAD3C
- ATL1
- ATL3
- ATP5F1A
- ATP5F1B
- ATP5F1C
- ATP5F1D
- ATP5F1E
- ATP5IF1
- ATP5MC1
- ATP5MC2
- ATP5MC3
- ATP5ME
- ATP5MF
- ATP5MG
- ATP5MGL
- ATP5MK
- ATP5PB
- ATP5PD
- ATP5PF
- ATP5PO
- ATPAF1
- ATPAF2
- BCS1L
- BOLA1
- BOLA2
- BOLA3
- C19ORF12
- C1QBP
- CARS2
- CEP89
- CHCHD10
- CHKB
- CLPB
- CLPP
- COA1
- COA3
- COA5
- COA6
- COA7
- COA8
- COASY
- COQ2
- COQ4
- COQ6
- COQ7
- COQ8A
- COQ8B
- COQ9
- COX10
- COX14
- COX15
- COX20
- COX4I1
- COX4I2
- COX5A
- COX5B
- COX6A1
- COX6A2
- COX6B1
- COX6B2
- COX6C
- COX7A1
- COX7A2
- COX7A2L
- COX7B
- COX7B2
- COX7C
- COX8A
- COX8C
- CYC1
- CYCS
- DARS2
- DDHD1
- DES
- DGUOK
- DHTKD1
- DLAT
- DLD
- DLST
- DMAC2L
- DNA2
- DNAJC19
- DNAJC3
- DNM1L
- EARS2
- ECHS1
- ECSIT
- ELAC2
- ETHE1
- FARS2
- FASTKD2
- FBXL4
- FDX2
- FDXR
- FH
- FOXRED1
- FXN
- GARS1
- GATB
- GATC
- GATM
- GFER
- GFM1
- GFM2
- GLRX5
- GLUD1
- GTPBP3
- HARS2
- HCCS
- HIBCH
- HLCS
- HSD17B10
- HSPA9
- HSPD1
- HTRA2
- IARS2
- IBA57
- ISCA1
- ISCA2
- ISCU
- KARS1
- LACTB
- LARS2
- LIAS
- LIPT1
- LIPT2
- LONP1
- LRPPRC
- LYRM4
- LYRM7
- MARS2
- MCUR1
- MDH2
- MED12
- MFF
- MFN2
- MGME1
- MICOS13
- MICU1
- MIEF2
- MMUT
- MPC1
- MPV17
- MRM2
- MRM3
- MRPL12
- MRPL3
- MRPL44
- MRPL57
- MRPS14
- MRPS16
- MRPS2
- MRPS22
- MRPS34
- MRPS7
- MRRF
- MSTO1
- MTFMT
- MTO1
- MTPAP
- MTRFR
- NADK2
- NARS2
- NAXE
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA3
- NDUFA4
- NDUFA5
- NDUFA6
- NDUFA7
- NDUFA8
- NDUFA9
- NDUFAB1
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF7
- NDUFB1
- NDUFB10
- NDUFB11
- NDUFB2
- NDUFB3
- NDUFB4
- NDUFB5
- NDUFB6
- NDUFB7
- NDUFB8
- NDUFB9
- NDUFC1
- NDUFC2
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS5
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NDUFV3
- NFS1
- NFU1
- NSUN3
- NUBPL
- OGDH
- OPA3
- OXA1L
- PANK2
- PARS2
- PDHA1
- PDHB
- PDHX
- PDK1
- PDK2
- PDK3
- PDK4
- PDP1
- PDSS1
- PDSS2
- PET100
- PET117
- PIGA
- PINK1
- PISD
- PITRM1
- PMPCA
- PNPT1
- PODXL
- POLG
- POLG2
- POLR3A
- PPA2
- PTRH2
- PUS1
- PYCR1
- PYCR2
- QRSL1
- RARS2
- REEP1
- RMND1
- RNASEH1
- RRM2B
- SARS2
- SCO1
- SCO2
- SDHA
- SDHAF1
- SDHB
- SDHD
- SERAC1
- SFXN4
- SLC19A2
- SLC19A3
- SLC25A1
- SLC25A12
- SLC25A13
- SLC25A19
- SLC25A22
- SLC25A24
- SLC25A3
- SLC25A32
- SLC25A4
- SLC25A46
- SLC25A5
- SLC25A6
- SLC39A8
- SPART
- SPAST
- SPG7
- SQSTM1
- STXBP1
- SUCLA2
- SUCLG1
- SUCLG2
- SURF1
- TACO1
- TANGO2
- TARS2
- THG1L
- TIMM44
- TIMM50
- TIMM8A
- TIMMDC1
- TK2
- TMEM126A
- TMEM126B
- TMEM70
- TPK1
- TRIAP1
- TRIT1
- TRMT10C
- TRMT5
- TRMU
- TRNT1
- TSFM
- TTC19
- TUFM
- TWNK
- TXN2
- TYMP
- UBA52
- UQCC1
- UQCC2
- UQCC3
- UQCR10
- UQCR11
- UQCRB
- UQCRC1
- UQCRC2
- UQCRFS1
- UQCRH
- UQCRQ
- VARS2
- VPS13D
- WARS2
- WWTR1
- YARS2
- YME1L1
-
mitochondrial disease, nuclear based (343 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 100.00 0 No comment ABAT 100.00 0 No comment ABCB7 100.00 0 No comment ACAD9 100.00 0 No comment ACO2 100.00 0 No comment ADPRS 99.18 0 No comment AFG3L2 95.05 0 No comment AGK 100.00 0 No comment AIFM1 100.00 0 No comment ALDH1B1 100.00 0 No comment ANO10 100.00 0 No comment APTX 100.00 0 No comment ATAD3A 98.67 0 No comment ATAD3B 98.52 0 No comment ATAD3C 97.28 0 No comment ATL1 100.00 0 No comment ATL3 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP5F1B 100.00 0 No comment ATP5F1C 100.00 0 No comment ATP5F1D 86.59 0 No comment ATP5F1E 100.00 0 No comment ATP5IF1 100.00 0 No comment ATP5MC1 100.00 0 No comment ATP5MC2 100.00 0 No comment ATP5MC3 100.00 0 No comment ATP5MK 100.00 0 No comment ATP5ME 100.00 0 No comment ATP5MF 100.00 0 No comment ATP5MG 100.00 0 No comment ATP5MGL 100.00 0 No comment ATP5PB 99.84 0 No comment ATP5PD 99.81 0 No comment ATP5PF 100.00 0 No comment ATP5PO 100.00 0 No comment ATPAF1 81.57 0 No comment ATPAF2 100.00 0 No comment BCS1L 100.00 0 No comment BOLA1 100.00 0 No comment BOLA2 100.00 0 No comment BOLA3 84.43 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 97.23 0 No comment CARS2 95.42 0 No comment CEP89 100.00 0 No comment CHCHD10 97.45 0 No comment CHKB 99.69 0 No comment CLPB 100.00 0 No comment CLPP 100.00 0 No comment COA1 100.00 0 No comment COA3 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COA7 100.00 0 No comment COA8 100.00 0 No comment COASY 100.00 0 No comment COQ2 97.15 0 No comment COQ4 100.00 0 No comment COQ6 100.00 0 No comment COQ7 100.00 0 No comment COQ8A 100.00 0 No comment COQ8B 90.08 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX4I1 100.00 0 No comment COX4I2 100.00 0 No comment COX5A 97.33 0 No comment COX5B 100.00 0 No comment COX6A1 100.00 0 No comment COX6A2 100.00 0 No comment COX6B1 100.00 0 No comment COX6B2 100.00 0 No comment COX6C 100.00 0 No comment COX7A1 100.00 0 No comment COX7A2 100.00 0 No comment COX7A2L 100.00 0 No comment COX7B 99.88 0 No comment COX7B2 100.00 0 No comment COX7C 100.00 0 No comment COX8A 100.00 0 No comment COX8C 98.71 0 No comment CYC1 88.46 0 No comment CYCS 100.00 0 No comment DARS2 100.00 0 No comment DDHD1 98.94 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.98 0 No comment DLAT 100.00 0 No comment DLD 100.00 0 No comment DLST 100.00 0 No comment DMAC2L 100.00 0 No comment DNA2 100.00 0 No comment DNAJC19 100.00 0 No comment DNAJC3 100.00 0 No comment DNM1L 100.00 0 No comment EARS2 100.00 0 No comment ECHS1 99.99 0 No comment ECSIT 100.00 0 No comment ELAC2 99.99 0 No comment ETHE1 99.88 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBXL4 100.00 0 No comment FDX2 100.00 0 No comment FDXR 100.00 0 No comment FH 100.00 0 No comment FOXRED1 100.00 0 No comment FXN 89.89 0 No comment GARS1 99.53 0 No comment GATB 100.00 0 No comment GATC 100.00 0 No comment GATM 99.26 0 No comment GFER 97.55 0 No comment GFM1 100.00 0 No comment GFM2 100.00 0 No comment GLRX5 84.06 0 No comment GLUD1 99.45 0 No comment GTPBP3 100.00 0 No comment HARS2 100.00 0 No comment HCCS 100.00 0 No comment HIBCH 100.00 0 No comment HLCS 100.00 0 No comment HSD17B10 100.00 0 No comment HSPA9 100.00 0 No comment HSPD1 99.53 0 No comment HTRA2 100.00 0 No comment IARS2 100.00 0 No comment IBA57 87.89 0 No comment ISCA1 99.77 0 No comment ISCA2 100.00 0 No comment ISCU 99.39 0 No comment KARS1 100.00 0 No comment LACTB 91.87 0 No comment LARS2 100.00 0 No comment LIAS 100.00 0 No comment LIPT1 100.00 0 No comment LIPT2 94.78 0 No comment LONP1 99.83 0 No comment LRPPRC 99.14 0 No comment LYRM4 68.80 0 No comment LYRM7 100.00 0 No comment MARS2 100.00 0 No comment MCUR1 79.55 0 No comment MDH2 98.91 0 No comment MFF 100.00 0 No comment MFN2 100.00 0 No comment MGME1 100.00 0 No comment MICOS13 100.00 0 No comment MICU1 100.00 0 No comment MIEF2 100.00 0 No comment MMUT 100.00 0 No comment MPC1 100.00 0 No comment MPV17 100.00 0 No comment MRM2 99.91 0 No comment MRM3 100.00 0 No comment MRPL12 92.58 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MRPL57 100.00 0 No comment MRPS14 100.00 0 No comment MRPS16 100.00 0 No comment MRPS2 98.34 0 No comment MRPS22 100.00 0 No comment MRPS34 97.33 0 No comment MRPS7 100.00 0 No comment MRRF 100.00 0 No comment MSTO1 100.00 0 No comment MTFMT 99.11 0 No comment MTO1 95.75 0 No comment MTPAP 100.00 0 No comment NADK2 90.73 0 No comment NARS2 100.00 0 No comment NAXE 99.78 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA13 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA4 99.68 0 No comment NDUFA5 87.27 0 No comment NDUFA6 100.00 0 No comment NDUFA7 100.00 0 No comment NDUFA8 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAB1 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFAF7 100.00 0 No comment NDUFB1 100.00 0 No comment NDUFB10 100.00 0 No comment NDUFB11 99.52 0 No comment NDUFB2 100.00 0 No comment NDUFB3 100.00 0 No comment NDUFB4 99.85 0 No comment NDUFB5 100.00 0 No comment NDUFB6 100.00 0 No comment NDUFB7 100.00 0 No comment NDUFB8 100.00 0 No comment NDUFB9 100.00 0 No comment NDUFC1 100.00 0 No comment NDUFC2 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS5 99.18 0 No comment NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NDUFV3 99.46 0 No comment NFS1 93.58 0 No comment NFU1 99.75 0 No comment NSUN3 100.00 0 No comment NUBPL 100.00 0 No comment OGDH 100.00 0 No comment MED12 100.00 0 No comment OPA3 100.00 0 No comment OXA1L 100.00 0 No comment PANK2 98.60 0 No comment PARS2 100.00 0 No comment PODXL 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDK1 99.19 0 No comment PDK2 100.00 0 No comment PDK3 99.76 0 No comment PDK4 100.00 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PET117 100.00 0 No comment PIGA 100.00 0 No comment PINK1 92.83 0 No comment PISD 100.00 0 No comment PITRM1 100.00 0 No comment PMPCA 100.00 0 No comment PNPT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment PPA2 99.97 0 No comment PTRH2 100.00 0 No comment PUS1 99.08 0 No comment PYCR1 100.00 0 No comment PYCR2 100.00 0 No comment QRSL1 100.00 0 No comment RARS2 100.00 0 No comment REEP1 97.37 0 No comment RMND1 100.00 0 No comment RNASEH1 100.00 0 No comment RRM2B 100.00 0 No comment SARS2 100.00 0 No comment SCO1 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SDHB 100.00 0 No comment SDHD 80.22 0 No comment SERAC1 100.00 0 No comment SFXN4 100.00 0 No comment SLC19A2 99.50 0 No comment SLC19A3 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A13 99.94 0 No comment SLC25A19 100.00 0 No comment SLC25A22 100.00 0 No comment SLC25A24 99.82 0 No comment SLC25A3 100.00 0 No comment SLC25A32 100.00 0 No comment SLC25A4 99.09 0 No comment SLC25A46 100.00 0 No comment SLC25A5 98.36 0 No comment SLC25A6 100.00 0 No comment SLC39A8 97.00 0 No comment SPART 100.00 0 No comment SPAST 100.00 0 No comment AFG2A 100.00 0 No comment SPG7 96.56 0 No comment SQSTM1 93.68 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUCLG2 99.95 0 No comment SURF1 87.74 0 No comment TACO1 99.90 0 No comment TANGO2 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 99.81 0 No comment THG1L 100.00 0 No comment TIMM44 99.93 0 No comment TIMM50 100.00 0 No comment TIMM8A 100.00 0 No comment TIMMDC1 100.00 0 No comment TK2 95.90 0 No comment TMEM126A 100.00 0 No comment TMEM126B 100.00 0 No comment TMEM70 100.00 0 No comment TPK1 100.00 0 No comment TRIAP1 100.00 0 No comment TRIT1 100.00 0 No comment TRMT10C 100.00 0 No comment TRMT5 100.00 0 No comment TRMU 100.00 0 No comment TRNT1 100.00 0 No comment TSFM 93.22 0 No comment TTC19 85.12 0 No comment TUFM 100.00 0 No comment TWNK 100.00 0 No comment TXN2 100.00 0 No comment TYMP 91.72 0 No comment UBA52 100.00 0 No comment UQCC1 100.00 0 No comment UQCC2 100.00 0 No comment UQCC3 100.00 0 No comment UQCR10 100.00 0 No comment UQCR11 100.00 0 No comment UQCRB 100.00 0 No comment UQCRC1 99.82 0 No comment UQCRC2 100.00 0 No comment UQCRFS1 98.87 0 No comment UQCRH 100.00 0 No comment UQCRQ 100.00 0 No comment VARS2 100.00 0 No comment VPS13D 100.00 0 No comment WARS2 100.00 0 No comment YARS2 100.00 0 No comment YME1L1 100.00 0 No comment