List of diseases covered by
nuclear genes NGS panel
| Gene | Condition |
| AARS2 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure |
| ABCB7 | Anemia, sideroblastic, with ataxia |
| ACAD9 | Mitochondrial complex I deficiency due to ACAD9 deficiency |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency of |
| ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of |
| ACADVL | VLCAD deficiency |
| ACO2 | Infantile cerebellar-retinal degeneration; Optic atrophy 9 |
| AFG3L2 | Spastic ataxia 5, autosomal recessive; Spinocerebellar ataxia 28 |
| AGK | Cataract 38, autosomal recessive; Sengers syndrome |
| AIFM1 | Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; Deafness, X-linked 5 |
| ALAS2 | Anemia, sideroblastic, 1; Protoporphyria, erythropoietic, X-linked |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| ATPAF2 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 |
| ATP7B | Wilson disease |
| ATP5F1A | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; Combined oxidative phosphorylation deficiency 22 |
| ATP5F1E | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 |
| AUH | 3-methylglutaconic aciduria, type I |
| BCS1L | Mitochondrial complex III deficiency, nuclear type 1; Bjornstad syndrome; GRACILE syndrome; Leigh syndrome |
| BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia |
| CARS2 | Combined oxidative phosphorylation deficiency 27 |
| CISD2 | Wolfram syndrome 2 |
| COA5 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
| COA6 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
| COA8 | Mitochondrial complex IV deficiency |
| C12orf65 | Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive |
| C19orf12 | Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive |
| COQ2 | Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy, susceptibility to |
| COQ6 | Coenzyme Q10 deficiency, primary, 6 |
| COQ9 | Coenzyme Q10 deficiency, primary, 5 |
| COQ8A | Coenzyme Q10 deficiency, primary, 4 |
| COX10 | Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial COX4 deficiency |
| COX14 | Mitochondrial complex IV deficiency |
| COX15 | Leigh syndrome due to cytochrome c oxidase deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
| COX20 | Mitochondrial complex IV deficiency |
| COX6A1 | Charcot-Marie-Tooth disease, recessive intermediate D |
| COX6A2 | Mitochondrial complex IV deficiency |
| COX8A2 | Mitochondrial complex IV deficiency |
| COX6B1 | Mitochondrial complex IV deficiency |
| CPT1A | CPT deficiency, hepatic, type IA |
| CPT2 | CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced |
| CYC1 | Mitochondrial complex III deficiency, nuclear type 6 |
| DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
| DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
| DLAT | Pyruvate dehydrogenase E2 deficiency |
| DLD | Dihydrolipoamide dehydrogenase deficiency |
| DNA2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; Seckel syndrome 8 |
| DNAJC19 | 3-methylglutaconic aciduria, type V |
| DNM1L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; Optic atrophy 5 |
| ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
| ELAC2 | Combined oxidative phosphorylation deficiency 17 |
| ETFA | Glutaric acidemia IIA |
| EARS2 | Combined oxidative phosphorylation deficiency 12 |
| ETFB | Glutaric acidemia IIB |
| ETFDH | Glutaric acidemia IIC |
| ETHE1 | Ethylmalonic encephalopathy |
| FARS2 | Combined oxidative phosphorylation deficiency 14; Spastic paraplegia 77, autosomal recessive |
| FASTKD2 | Mitochondrial complex IV deficiency |
| FBP1 | Fructose-1,6-bisphosphatase deficiency |
| FBXL4 | Mitochondrial DNA depletion syndrome 13 |
| FH | Fumarase deficiency; Leiomyomatosis and renal cell cancer |
| FDX2 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy |
| FLAD1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
| FOXRED1 | Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency |
| GAMT | Cerebral creatine deficiency syndrome 2 |
| GARS1 | Neuronopathy, distal hereditary motor, type VA; Charcot-Marie-Tooth disease, type 2D |
| GATM | Cerebral creatine deficiency syndrome 3 |
| GCDH | Glutaricaciduria, type I |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
| GFM1 | Combined oxidative phosphorylation deficiency 1 |
| GFM2 | Combined oxidative phosphorylation deficiency 39 |
| GLRX5 | Spasticity, childhood-onset, with hyperglycinemia; Anemia, sideroblastic, 3, pyridoxine-refractory |
| G6PC | Glycogen storage disease Ia |
| GTPBP3 | Combined oxidative phosphorylation deficiency 23 |
| GYS2 | Glycogen storage disease 0, liver |
| HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 |
| HADHA | LCHAD deficiency; Trifunctional protein deficiency |
| HARS2 | Perrault syndrome 2 |
| HLCS | Holocarboxylase synthetase deficiency |
| HMGCL | HMG-CoA lyase deficiency |
| HSPD1 | Leukodystrophy, hypomyelinating, 4; Spastic paraplegia 13, autosomal dominant |
| HTRA2 | 3-methylglutaconic aciduria, type VIII |
| ISCU | Myopathy with lactic acidosis, hereditary |
| LRPPRC | Leigh syndrome, French-Canadian type |
| MFN2 | Charcot-Marie-Tooth disease, axonal, type 2A2A; Charcot-Marie-Tooth disease, axonal, type 2A2B; Hereditary motor and sensory neuropathy VIA |
| MPV17 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| MRPS7 | Combined oxidative phosphorylation deficiency 34 |
| MRPS16 | Combined oxidative phosphorylation deficiency 2 |
| MRPS22 | Combined oxidative phosphorylation deficiency 5 |
| MTFMT | Combined oxidative phosphorylation deficiency 15 |
| MTO1 | Combined oxidative phosphorylation deficiency 10 |
| MTPAP | Spastic ataxia 4, autosomal recessive |
| NARS2 | Combined oxidative phosphorylation deficiency 24; Deafness, autosomal recessive 94 |
| NDUFA1 | Mitochondrial complex I deficiency |
| NDUFA9 | Mitochondrial complex I deficiency, nuclear type 26 |
| NDUFA10 | Leigh syndrome |
| NDUFA11 | Mitochondrial complex I deficiency |
| NDUFA12 | Leigh syndrome due to mitochondrial complex 1 deficiency |
| NDUFA2 | Leigh syndrome due to mitochondrial complex I deficiency |
| NDUFAF1 | Mitochondrial complex I deficiency |
| NDUFAF2 | Mitochondrial complex I deficiency |
| NDUFAF3 | Mitochondrial complex I deficiency |
| NDUFAF4 | Mitochondrial complex I deficiency |
| NDUFAF5 | Mitochondrial complex 1 deficiency |
| NDUFAF6 | Mitochondrial complex I deficiency, nuclear type 17 |
| NDUFB3 | Mitochondrial complex I deficiency |
| NDUFB9 | Mitochondrial complex I deficiency |
| NDUFB11 | Mitochondrial complex I deficiency, nuclear type 30; Linear skin defects with multiple congenital anomalies 3 |
| NDUFS1 | Mitochondrial complex I deficiency |
| NDUFS2 | Mitochondrial complex I deficiency |
| NDUFS3 | Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency |
| NDUFS4 | Leigh syndrome; Mitochondrial complex I deficiency |
| NDUFS6 | Mitochondrial complex I deficiency |
| NDUFS7 | Leigh syndrome |
| NDUFS8 | Leigh syndrome due to mitochondrial complex I deficiency |
| NDUFV1 | Mitochondrial complex I deficiency |
| NDUFV2 | Mitochondrial complex I deficiency |
| NFU1 | Multiple mitochondrial dysfunctions syndrome 1 |
| NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome |
| NUBPL | Mitochondrial complex I deficiency |
| OPA1 | Mitochondrial DNA depletion syndrome 14; Behr syndrome; Optic atrophy 1; Optic atrophy plus syndrome |
| OPA3 | 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract |
| OTC | Ornithine transcarbamylase deficiency |
| PARS2 | Epileptic encephalopathy, early infantile, 75 |
| PC | Pyruvate carboxylase deficiency |
| PCCA | Propionicacidemia |
| PCCB | Propionicacidemia |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency |
| PDHB | Pyruvate dehydrogenase E1-beta deficiency |
| PDHX | Lacticacidemia due to PDX1 deficiency |
| PDP1 | Pyruvate dehydrogenase phosphatase deficiency |
| PDSS1 | Coenzyme Q10 deficiency, primary, 2 |
| PDSS2 | Coenzyme Q10 deficiency, primary, 3 |
| PDX1 | MODY, type IV; Pancreatic agenesis 1 |
| PET100 | Mitochondrial complex IV deficiency |
| PNPT1 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 |
| POLG | Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1 |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
| PUS1 | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RARS2 | Pontocerebellar hypoplasia, type 6 |
| REEP1 | Neuronopathy, distal hereditary motor, type VB; Spastic paraplegia 31, autosomal dominant |
| RMND1 | Combined oxidative phosphorylation deficiency 11 |
| RNASEH1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
| RRM2B | Mitochondrial DNA depletion syndrome 8A ; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| SARS2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis |
| SCO1 | Mitochondrial complex IV deficiency |
| SCO2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 |
| SDHA | Mitochondrial respiratory chain complex II deficiency; Leigh syndrome; Cardiomyopathy, dilated, 1GG; Paragangliomas 5 |
| SDHAF1 | Mitochondrial complex II deficiency |
| SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| SETX | Amyotrophic lateral sclerosis 4, juvenile; Spinocerebellar ataxia, autosomal recessive 1 |
| SFXN4 | Combined oxidative phosphorylation deficiency 18 |
| SLC19A3 | Thiamine metabolism dysfunction syndrome 2 |
| SLC25A3 | Mitochondrial phosphate carrier deficiency |
| SLC25A4 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SLC25A26 | Combined oxidative phosphorylation deficiency 28 |
| SLC25A38 | Anemia, sideroblastic, 2, pyridoxine-refractory |
| SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 |
| SLC37A4 | Glycogen storage disease Ib; Glycogen storage disease Ic |
| SOD1 | Amyotrophic lateral sclerosis 1 |
| SPAST | Spastic paraplegia 4, autosomal dominant |
| SPG7 | Spastic paraplegia 7, autosomal recessive |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 |
| SUCLG1 | Mitochondrial DNA depletion syndrome 9 |
| SURF1 | Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency |
| TACO1 | Mitochondrial complex IV deficiency |
| TARS2 | Combined oxidative phosphorylation deficiency 21 |
| TAZ | Barth syndrome |
| TFAM | Mitochondrial DNA depletion syndrome 15 |
| TIMM8A | Mohr-Tranebjaerg syndrome |
| TK2 | Mitochondrial DNA depletion syndrome 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
| TMEM70 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 |
| TMEM126A | Optic atrophy 7 |
| TMEM126B | Mitochondrial complex I deficiency, nuclear type 29 |
| TPK1 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) |
| TRIT1 | Combined oxidative phosphorylation deficiency 35 |
| TRMT10C | Combined oxidative phosphorylation deficiency 30 |
| TRMU | Liver failure, transient infantile; Deafness, mitochondrial, modifier of |
| TRNT1 | Retinitis pigmentosa and erythrocytic microcytosis; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
| TSFM | Combined oxidative phosphorylation deficiency 3 |
| TTC19 | Mitochondrial complex III deficiency, nuclear type 2 |
| TUFM | Combined oxidative phosphorylation deficiency 4 |
| TWNK | Mitochondrial DNA depletion syndrome 7; Perrault syndrome 5; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| TYMP | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| UQCC2 | Mitochondrial complex III deficiency, nuclear type 7 |
| UQCC3 | Mitochondrial complex III deficiency, nuclear type 9 |
| UQCRC2 | Mitochondrial complex III deficiency, nuclear type 5 |
| UQCRB | Mitochondrial complex III deficiency, nuclear type 3 |
| UQCRQ | Mitochondrial complex III deficiency, nuclear type 4 |
| VARS2 | Combined oxidative phosphorylation deficiency 20 |
| WFS1 | Deafness, autosomal dominant 6/14/38; Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant; Cataract 41; Diabetes mellitus, noninsulin-dependent, association with |
| YARS2 | Myopathy, lactic acidosis, and sideroblastic anemia 2 |