Mitochondrial DNA depletion syndromes | Detection of deletions/duplications in the DGUOK, MPV17, RRM2B, SUCLA2, SUCLG1, TK2 genes by MLPA | 28 days | LV4117 | +Info |
Mitochondrial complex IV deficiency | NGS of 10 gene panel: COA5, COX10, COX14, COX20, COX6B1, FASTKD2, PET100, SCO1, SCO2, TACO1. | 42 days | LV3260 | +Info |
Methylmalonic aciduria and Ethylmalonic encephalopathy | NGS of 13 gene panel: ABCD4, CD320, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA, PCCB, SUCLA2, SUCLG1 | 42 days | LV3266 | +Info |
Methylglutaconic Aciduria and 3-Methylcrotonyl-CoA carboxylase deficiency | NGS of 13 gene panel: AGK, ATP5E, ATPAF2, AUH, DNAJC19, MCCC1, MCCC2, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70 | 42 days | LV3267 | +Info |
Mitochondrial DNA depletion syndromes | NGS of 13 gene panel: AGK, C10orf2, DGUOK, FBXL4, MGME1, MPV17, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP | 42 days | LV3253 | +Info |
Combined oxidative phosphorylation deficiency | NGS of 22 gene panel: AARS2, AIFM1, C12orf65, EARS2, ELAC2, FARS2, GFM1, LYRM4, MARS2, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, PNPT1, RMND1, SFXN4, TARS2, TSFM, TUFM, VARS2. | 42 days | LV3263 | +Info |
Progressive External Ophthalmoplegia (PEO) and Optic Atrophy | NGS of 23 gene panel: ACO2, AUH, C10ORF2 , DNA2, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, OPA1, OPA3, POLG, POLG2, REEP1, RRM2B, SLC19A3, SLC25A4, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1 | 42 days | LV3255 | +Info |
Mitochondrial complex I deficiency | NGS of 27 gene panel: ACAD9, COA6, ECSIT, FOXRED1, NDUFA1, NDUFA11, NDUFA2, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB7, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS8, NDUFV1, NDUFV2, NUBPL | 42 days | LV3258 | +Info |
Leigh syndrome (nuclear type) | NGS of 30 gene panel: AIFM1, BCS1L, COX10, COX15, FOXRED1, LRPPRC, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PC, PDHA1, PET100, SCO2, SDHAF1, SURF1, TACO1, TTC19, UQCRQ, | 42 days | LV3256 | +Info |
Leigh-like syndrome (nuclear type) | NGS of 35 gene panel: ACAT1, AIFM1, AFG3L2, C12orf65, CA5A, DLD, EARS2, ETHE1, FARS2, FBXL4, GFM1, HSD17B10, LARS, LIAS, MARS, MTFMT, NDUFA1, PDHA1, PDHB, PDHX, PDSS2, PNPT1, POLG, SARS2, SERAC1, SLC19A3, SLC25A19, SLC25A13, SLC25A15, SUCLA2, SUCLG1, TPK1, TRMU, TSFM, UNG | 42 days | LV3257 | +Info |
Hydroxyglutaric aciduria | NGS of 3 gene panel: D2HGDH, IDH2, SLC25A1 | 42 days | LV3271 | +Info |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with or without methylmalonic aciduria) | NGS of 3 gene panel: FBXL4, SUCLA2, SUCLG1 | 42 days | LV3250 | +Info |
Mitochondrial DNA depletion syndrome (neurogastrointestinal encephalopathy, MNGIE type) with or without renal tubulopathy, Mitochondrial recessive ataxia syndrome (includes | NGS of 3 gene panel: POLG, RRM2B, TYMP | 42 days | LV3252 | +Info |
Nuclear mitochondrial myopathy | NGS of 48 gene panel: AGK, AIFM1, CHKB, COX15, C10orf2, CPT2, DLAT, DNAJC19, FBXL4, FOXRED1, GFER, ISCU, LIAS, MICU1, MPC1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, OPA1, PC, PDHA1, PDHB, PDP1, POLG, POLG2, PUS1, RRM2B, SCO2, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP, YARS2 | 42 days | LV3272 | +Info |
Mitochondrial DNA depletion syndrome (cardiomyopathic and myopathic types) | NGS of 4 gene panel: AGK, MGME1, SLC25A4, TK2 | 42 days | LV3251 | +Info |
Mitochondrial complex V deficiency | NGS of 4 gene panel: ATPAF2, ATP5A1, ATP5E, TMEM70 | 42 days | LV3261 | +Info |
Maple syrup urine disease | NGS of 4 gene panel: BCKDHB, BCKDHA, DBT, PPM1K | 42 days | LV3269 | +Info |
Mitochondrial DNA depletion syndrome (hepatocerebral and Alpers type). | NGS of 4 gene panel: C10orf2, DGUOK, MPV17, POLG | 42 days | LV3249 | +Info |
Glycogen storage disease | NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4 | 42 days | LV3270 | +Info |
Anemia, sideroblastic and Protoporphyria, erythropoietic | NGS of 6 gene panel: ABCB7, ALAS2, FECH, FTMT, PUS1, YARS2 | 42 days | LV3273 | +Info |
Acyl-CoA Dehydrogenase deficiency | NGS of 6 gene panel: ACAD9, ACADVL, ACADM, ACADS, AMACR, HMGCS2 | 42 days | LV3254 | +Info |
Coenzyme Q10 deficiency, primary | NGS of 7 gene panel: ADCK3, COQ2, COQ4, COQ6, COQ9, PDSS1, PDSS2 | 42 days | LV3264 | +Info |
Lactic Acidosis and Pyruvate metabolism disorders | NGS of 86 gene panel:ACAD9, ADCK3, AGK, ALDH2, ATP5E, ATPAF2, BCS1L, BOLA3, COQ2, COQ9, COX10, COX14, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, FARS2, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, G6PC, GFM1, GYS2, HLCS, ISCU, LIAS, LRPPRC, MPC1, MPC2, MRPS16, MRPS22, MTO1, NDUFA9, NDUFA11, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFU1, PC , PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RMND1, RRM2B, SCO2, SERAC1, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SURF1, TAZ, TIMM44, TK2, TMEM70, TPK1, TRMU, TSFM, TUFM, TYMP, UQCRB, YARS2 | 42 days | LV3268 | +Info |
Pyruvate dehydrogenase deficiency and Pyruvate carboxylase deficiency | NGS of 8 gene panel: DLAT, LIAS, MPC1, PC, PDHA1, PDHB, PDHX, PDP1 | 42 days | LV3265 | +Info |
Mitochondrial complex II and III deficiency and Gracile, Bjornstad syndromes. | NGS of 9 gene panel: BCS1L, CYC1, LYRM7, SDHAF1, TTC19, UQCC2, UQCRB, UQCRC2, UQCRQ. | 42 days | LV3259 | +Info |
Thiamine metabolism dysfunction syndromes and Microcephaly. | NGS of 9 gene panel: COX7B, GFM2, NUP62, RARS2, SLC19A2, SLC19A3, SLC25A12, SLC25A19, TPK1 | 42 days | LV3262 | +Info |
Glycogen storage disease | NGS of 24 gene panel: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4. | 42 days | LV3397 | +Info |
Mitochondrial complex IV deficiency | Sanger sequencing of the COX14 | 28 days | LV4325 | +Info |