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
AFG3L2 Spastic ataxia 5, autosomal recessive; Spinocerebellar ataxia 28
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
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
C12orf65 Combined oxidative phosphorylation deficiency 7;
Spastic paraplegia 55, autosomal recessive
CISD2 Wolfram syndrome 2
COA5 Cardioencephalomyopathy, fatal infantile,
due to cytochrome c oxidase deficiency 3
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
COX15 Leigh syndrome due to
cytochrome c oxidase deficiency;
Cardioencephalomyopathy, fatal infantile,
due to cytochrome c oxidase deficiency 2
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
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
DNAJC19 3-methylglutaconic aciduria, type V
DNM1L Encephalopathy, lethal,
due to defective mitochondrial peroxisomal fission 1; Optic atrophy 5
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
ETHE1 Ethylmalonic encephalopathy
FASTKD2 Mitochondrial complex IV deficiency
FBP1 Fructose-1,6-bisphosphatase deficiency
FH Fumarase deficiency; Leiomyomatosis and renal cell cancer
FOXRED1 Leigh syndrome due to mitochondrial complex I deficiency;
Mitochondrial complex I deficiency
G6PC Glycogen storage disease Ia
GAMT Cerebral creatine deficiency syndrome 2
GATM Cerebral creatine deficiency syndrome 3
GFER Myopathy, mitochondrial progressive, with congenital cataract,
hearing loss, and developmental delay
GFM1 Combined oxidative phosphorylation deficiency 1
GYS2 Glycogen storage disease 0, liver
HARS2 Perrault syndrome 2
HLCS Holocarboxylase synthetase deficiency
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency;
Hyperinsulinemic hypoglycemia, familial, 4
HADHA LCHAD deficiency; Trifunctional protein deficiency
HSPD1 Leukodystrophy, hypomyelinating, 4;
Spastic paraplegia 13, autosomal dominant
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)
MRPS16 Combined oxidative phosphorylation deficiency 2
MRPS22 Combined oxidative phosphorylation deficiency 5
MTFMT Combined oxidative phosphorylation deficiency 15
MTPAP Spastic ataxia 4, autosomal recessive
NDUFA1 Mitochondrial complex I deficiency
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
NDUFB3 Mitochondrial complex I deficiency
NDUFB9 Mitochondrial complex I deficiency
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
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
PC Pyruvate carboxylase deficiency
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
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
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
SETX Amyotrophic lateral sclerosis 4, juvenile;
Spinocerebellar ataxia, autosomal recessive 1
SLC19A3 Thiamine metabolism dysfunction syndrome 2
SLC25A20 Carnitine-acylcarnitine translocase deficiency
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
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC37A4 Glycogen storage disease Ib; Glycogen storage disease Ic
SOD1 Amyotrophic lateral sclerosis 1
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
TAZ Barth syndrome
TIMM8A Mohr-Tranebjaerg syndrome
TK2 Mitochondrial DNA depletion syndrome 2;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal recessive 3
TMEM126A Optic atrophy 7
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TRMU Liver failure, transient infantile; Deafness, mitochondrial, modifier of
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)
UQCRB Mitochondrial complex III deficiency, nuclear type 3
UQCRQ Mitochondrial complex III deficiency, nuclear type 4
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