List of diseases covered by nuclear genes NGS panel

Published 30/05/2018

List of diseases covered by
nuclear genes NGS panel

Gene Condition
AARS2 Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure
AASS Hyperlysinemia
ABAT GABA-transaminase deficiency
ABCB6 Dyschromatosis universalis hereditaria 3; Microphthalmia, isolated, with coloboma 7; Pseudohyperkalemia, familial, 2, due to red cell leak; [Blood group, Langereis system]
ABCB7 Anemia, sideroblastic, with ataxia
ABCD1 Adrenoleukodystrophy; Adrenomyeloneuropathy, adult
ABCD3 ?Bile acid synthesis defect, congenital, 5
ACACA Acetyl-CoA carboxylase deficiency
ACAD8 Isobutyryl-CoA dehydrogenase deficiency
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
ACADSB 2-methylbutyrylglycinuria
ACADVL VLCAD deficiency
ACAT1 Alpha-methylacetoacetic aciduria
ACO2 Infantile cerebellar-retinal degeneration; Optic atrophy 9
ACOX1 Mitchell syndrome; Peroxisomal acyl-CoA oxidase deficiency
ACSF3 Combined malonic and methylmalonic aciduria
ACSL4 Intellectual developmental disorder, X-linked 63
AFG3L2 Spastic ataxia 5, autosomal recessive; Spinocerebellar ataxia 28
AGK Cataract 38, autosomal recessive; Sengers syndrome
AGXT Hyperoxaluria, primary, type 1
AIFM1 Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; Deafness, X-linked 5
AK2 Reticular dysgenesis
ALAS2 Anemia, sideroblastic, 1; Protoporphyria, erythropoietic, X-linked
ALDH18A1 Cutis laxa, autosomal dominant 3; Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive
ALDH2 Alcohol sensitivity, acute; {Esophageal cancer, alcohol-related, susceptibility to}; {Hangover, susceptibility to}; {Sublingual nitroglycerin, susceptibility to poor response to}
ALDH3A2 Sjogren-Larsson syndrome
ALDH4A1 Hyperprolinemia, type II
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency
ALDH7A1 Epilepsy, pyridoxine-dependent
AMACR Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4
AMT Glycine encephalopathy
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ATIC AICA-ribosiduria due to ATIC deficiency
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
ATP7B Wilson disease
ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
ATXN2 Spinocerebellar ataxia 2; {Amyotrophic lateral sclerosis, susceptibility to, 13}; {Parkinson disease, late-onset, susceptibility to}
AUH 3-methylglutaconic aciduria, type I
BAX Colorectal cancer, somatic; T-cell acute lymphoblastic leukemia, somatic
BCKDHA Maple syrup urine disease, type Ia
BCKDHB Maple syrup urine disease, type Ib
BCKDK Branched-chain keto acid dehydrogenase kinase deficiency
BCL2 Leukemia/lymphoma, B-cell, 2
BCS1L Mitochondrial complex III deficiency, nuclear type 1; Bjornstad syndrome; GRACILE syndrome; Leigh syndrome
BOLA3 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
BRIP1 Fanconi anemia, complementation group J; {Breast cancer, early-onset, susceptibility to}
BTD Biotinidase deficiency
C12orf65 Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive
C19orf12 Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency
CARS2 Combined oxidative phosphorylation deficiency 27
CASP8 ?Autoimmune lymphoproliferative syndrome, type IIB; Hepatocellular carcinoma, somatic; {Breast cancer, protection against}; {Lung cancer, protection against}
CAT Acatalasemia
CAVIN1 Lipodystrophy, congenital generalized, type 4
CEL Maturity-onset diabetes of the young, type VIII
CHCHD10 ?Myopathy, isolated mitochondrial, autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Spinal muscular atrophy, Jokela type
CISD2 Wolfram syndrome 2
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
CLPP Perrault syndrome 3
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
COASY Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia, type 12
COMT {Panic disorder, susceptibility to}; {Schizophrenia, susceptibility to}
COQ2 Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy, susceptibility to
COQ4 Coenzyme Q10 deficiency, primary, 7
COQ6 Coenzyme Q10 deficiency, primary, 6
COQ8A Coenzyme Q10 deficiency, primary, 4
COQ8B Nephrotic syndrome, type 9
COQ9 Coenzyme Q10 deficiency, primary, 5
COQ9 Coenzyme Q10 deficiency, primary, 5
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
COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
COX6A1 Charcot-Marie-Tooth disease, recessive intermediate D
COX6A2 Mitochondrial complex IV deficiency
COX6B1 Mitochondrial complex IV deficiency
COX7B Linear skin defects with multiple congenital anomalies 2
COX8A2 Mitochondrial complex IV deficiency
CPOX Coproporphyria; Harderoporphyria
CPS1 Carbamoylphosphate synthetase I deficiency; {Pulmonary hypertension, neonatal, susceptibility to}
CPT1A CPT deficiency, hepatic, type IA
CPT1C ?Spastic paraplegia 73, autosomal dominant
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced
CRBN Mental retardation, autosomal recessive 2
CYB5A Methemoglobinemia and ambiguous genitalia
CYB5R3 Methemoglobinemia, type I; Methemoglobinemia, type II
CYC1 Mitochondrial complex III deficiency, nuclear type 6
CYCS Thrombocytopenia 4
CYP11A1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable
CYP11B2 Aldosterone to renin ratio raised; Hypoaldosteronism, congenital, due to CMO I deficiency; Hypoaldosteronism, congenital, due to CMO II deficiency; {Low renin hypertension, susceptibility to}
CYP24A1 Hypercalcemia, infantile, 1
CYP27A1 Cerebrotendinous xanthomatosis
CYP27B1 Vitamin D-dependent rickets, type I
D2HGDH D-2-hydroxyglutaric aciduria
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DBT Maple syrup urine disease, type II
DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
DHCR24 Desmosterolosis
DHODH Miller syndrome
DHTKD1 ?Charcot-Marie-Tooth disease, axonal, type 2Q; Alpha-aminoadipic and alpha-ketoadipic aciduria
DIABLO Deafness, autosomal dominant 64
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
DMGDH Dimethylglycine dehydrogenase deficiency
DMPK Myotonic dystrophy 1
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; Seckel syndrome 8
DNAJC19 3-methylglutaconic aciduria, type V
DNAJC3 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; Optic atrophy 5
EARS2 Combined oxidative phosphorylation deficiency 12
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
ELAC2 Combined oxidative phosphorylation deficiency 17
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
ETHE1 Ethylmalonic encephalopathy
FAH Tyrosinemia, type I
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
FDX2 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
FECH Protoporphyria, erythropoietic, 1
FH Fumarase deficiency; Leiomyomatosis and renal cell cancer
FKBP10 Bruck syndrome 1; Osteogenesis imperfecta, type XI
FLAD1 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
FOXRED1 Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency
FTH1 ?Hemochromatosis, type 5
FXN Friedreich ataxia; Friedreich ataxia with retained reflexes
G6PC Glycogen storage disease Ia
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
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, type 4A
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GFM1 Combined oxidative phosphorylation deficiency 1
GFM2 Combined oxidative phosphorylation deficiency 39
GK Glycerol kinase deficiency
GLDC Glycine encephalopathy
GLRX5 Spasticity, childhood-onset, with hyperglycinemia; Anemia, sideroblastic, 3, pyridoxine-refractory
GLUD1 Hyperinsulinism-hyperammonemia syndrome
GLYCTK D-glyceric aciduria
GPI Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
GPT2 Neurodevelopmental disorder with microcephaly and spastic paraplegia
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency
GRHPR Hyperoxaluria, primary, type II
GSR Hemolytic anemia due to glutathione reductase deficiency
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
HAMP Hemochromatosis, type 2B
HARS2 Perrault syndrome 2
HAX1 Neutropenia, severe congenital 3, autosomal recessive
HCCS Linear skin defects with multiple congenital anomalies 1
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive
HK1 Hemolytic anemia due to hexokinase deficiency; Neurodevelopmental disorder with visual defects and brain anomalies; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79
HLCS Holocarboxylase synthetase deficiency
HLCS Holocarboxylase synthetase deficiency
HMBS Porphyria, acute intermittent; Porphyria, acute intermittent, nonerythroid variant
HMGCL HMG-CoA lyase deficiency
HMGCS2 HMG-CoA synthase-2 deficiency
HOGA1 Hyperoxaluria, primary, type III
HSD17B10 HSD10 mitochondrial disease
HSD17B4 D-bifunctional protein deficiency; Perrault syndrome 1
HSD3B2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
HSPA9 Anemia, sideroblastic, 4; Even-plus syndrome
HSPD1 Leukodystrophy, hypomyelinating, 4; Spastic paraplegia 13, autosomal dominant
HTRA2 3-methylglutaconic aciduria, type VIII
IDH2 D-2-hydroxyglutaric aciduria 2
IDH3B Retinitis pigmentosa 46
ISCU Myopathy with lactic acidosis, hereditary
IVD Isovaleric acidemia
KARS1 ?Charcot-Marie-Tooth disease, recessive intermediate, B; Deafness, autosomal recessive 89; Deafness, congenital, and adult-onset progressive leukoencephalopathy; Leukoencephalopathy, progressive, infantile-onset, with or without deafness
KIF1B Charcot-Marie-Tooth disease, type 2A1; Pheochromocytoma; {Neuroblastoma, susceptibility to, 1}
KRT5 Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex 2E, with migratory circinate erythema; Epidermolysis bullosa simplex 2F, with mottled pigmentation
L2HGDH L-2-hydroxyglutaric aciduria
LONP1 CODAS syndrome
LRPPRC Leigh syndrome, French-Canadian type
MAOA Brunner syndrome; {Antisocial behavior}
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency
MCEE Methylmalonyl-CoA epimerase deficiency
MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2A; Charcot-Marie-Tooth disease, axonal, type 2A2B; Hereditary motor and sensory neuropathy VIA
MIP Cataract 15, multiple types
MLYCD Malonyl-CoA decarboxylase deficiency
MMAA Methylmalonic aciduria, vitamin B12-responsive, cblA type
MMAB Methylmalonic aciduria, vitamin B12-responsive, cblB type
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MMADHC Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type, variant 2
MMUT Methylmalonic aciduria, mut(0) type
MOCS1 Molybdenum cofactor deficiency A
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MRPL3 Combined oxidative phosphorylation deficiency 9
MRPL44 Combined oxidative phosphorylation deficiency 16
MRPS16 Combined oxidative phosphorylation deficiency 2
MRPS22 Combined oxidative phosphorylation deficiency 5
MRPS7 Combined oxidative phosphorylation deficiency 34
MSRB3 Deafness, autosomal recessive 74
MTFMT Combined oxidative phosphorylation deficiency 15
MTO1 Combined oxidative phosphorylation deficiency 10
MTPAP Spastic ataxia 4, autosomal recessive
MTRR Homocystinuria-megaloblastic anemia, cbl E type; {Neural tube defects, folate-sensitive, susceptibility to}
NADK2 2,4-dienoyl-CoA reductase deficiency
NAGS N-acetylglutamate synthase deficiency
NARS2 Combined oxidative phosphorylation deficiency 24; Deafness, autosomal recessive 94
NBAS Infantile liver failure syndrome 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly
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
NDUFA9 Mitochondrial complex I deficiency, nuclear type 26
NDUFA9 Mitochondrial complex I deficiency, nuclear type 26
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
NDUFB11 ?Mitochondrial complex I deficiency, nuclear type 30; Linear skin defects with multiple congenital anomalies 3
NDUFB11 Mitochondrial complex I deficiency, nuclear type 30; Linear skin defects with multiple congenital anomalies 3
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
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency
NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome
NTHL1 Familial adenomatous polyposis 3
NUBPL Mitochondrial complex I deficiency
OAT Gyrate atrophy of choroid and retina with or without ornithinemia
OGDH ?Oxoglutarate dehydrogenase deficiency
OGG1 Renal cell carcinoma, clear cell, somatic
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
OTC Ornithine transcarbamylase deficiency
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
P4HB Cole-Carpenter syndrome 1
PAM16 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
PANK2 HARP syndrome; Neurodegeneration with brain iron accumulation 1
PARK7 Parkinson disease 7, autosomal recessive early-onset
PARS2 Epileptic encephalopathy, early infantile, 75
PC Pyruvate carboxylase deficiency
PC Pyruvate carboxylase deficiency
PCCA Propionicacidemia
PCCA Propionicacidemia
PCCB Propionicacidemia
PCCB Propionicacidemia
PCK2 PEPCK deficiency, mitochondrial
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
PDHB Pyruvate dehydrogenase E1-beta deficiency
PDHX Lacticacidemia due to PDX1 deficiency
PDK3 ?Charcot-Marie-Tooth disease, X-linked dominant, 6
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
PEX11B Peroxisome biogenesis disorder 14B
PHYH Refsum disease
PINK1 Parkinson disease 6, early onset
PKLR Adenosine triphosphate, elevated, of erythrocytes; Pyruvate kinase deficiency
PNPLA8 ?Mitochondrial myopathy with lactic acidosis
PNPO Pyridoxamine 5′-phosphate oxidase deficiency
PNPT1 Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70
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
PPOX Porphyria variegata
PRODH Hyperprolinemia, type I; {Schizophrenia, susceptibility to, 4}
PTRH2 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
PTS Hyperphenylalaninemia, BH4-deficient, A
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
PYCR1 Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB
PYCR2 Leukodystrophy, hypomyelinating, 10
QDPR Hyperphenylalaninemia, BH4-deficient, C
RARS2 Pontocerebellar hypoplasia, type 6
RDH11 ?Retinal dystrophy, juvenile cataracts, and short stature syndrome
REEP1 Neuronopathy, distal hereditary motor, type VB; Spastic paraplegia 31, autosomal dominant
RMND1 Combined oxidative phosphorylation deficiency 11
RMND1 Combined oxidative phosphorylation deficiency 11
RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
RNASEL Prostate cancer 1
RPIA Ribose 5-phosphate isomerase deficiency
RPL35A Diamond-Blackfan anemia 5
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic
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
SDHAF2 Paragangliomas 2
SECISBP2 Thyroid hormone metabolism, abnormal
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
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
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC16A1 Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7; Monocarboxylate transporter 1 deficiency
SLC19A3 Thiamine metabolism dysfunction syndrome 2
SLC25A12 Developmental and epileptic encephalopathy 39
SLC25A13 Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19 Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
SLC25A20 Carnitine-acylcarnitine translocase deficiency
SLC25A22 Developmental and epileptic encephalopathy 3
SLC25A26 Combined oxidative phosphorylation deficiency 28
SLC25A3 Mitochondrial phosphate carrier deficiency
SLC25A3 Mitochondrial phosphate carrier deficiency
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory
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
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SLC37A4 Glycogen storage disease Ib; Glycogen storage disease Ic
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC9A6 Intellectual developmental disorder, X-linked syndromic, Christianson type
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SOD1 Amyotrophic lateral sclerosis 1
SOD2 {Microvascular complications of diabetes 6}
SPAST Spastic paraplegia 4, autosomal dominant
SPG7 Spastic paraplegia 7, autosomal recessive
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
SUCLA2 Mitochondrial DNA depletion syndrome 5
SUCLG1 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUCLG1 Mitochondrial DNA depletion syndrome 9
SUGCT Glutaric aciduria III
SUOX Sulfite oxidase deficiency
SURF1 Charcot-Marie-Tooth disease, type 4K; Mitochondrial complex IV deficiency, nuclear type 1
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
TCIRG1 Osteopetrosis, autosomal recessive 1
TFAM Mitochondrial DNA depletion syndrome 15
TFR2 Hemochromatosis, type 3
TIMM8A Mohr-Tranebjaerg syndrome
TK2 Mitochondrial DNA depletion syndrome 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
TMEM126A Optic atrophy 7
TMEM126B Mitochondrial complex I deficiency, nuclear type 29
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TMLHE {Autism, susceptibility to, X-linked 6}
TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency
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
TUBB3 Cortical dysplasia, complex, with other brain malformations 1; Fibrosis of extraocular muscles, congenital, 3A
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)
UNG Immunodeficiency with hyper IgM, type 5
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
UQCC3 Mitochondrial complex III deficiency, nuclear type 9
UQCRB Mitochondrial complex III deficiency, nuclear type 3
UQCRC2 Mitochondrial complex III deficiency, nuclear type 5
UQCRQ Mitochondrial complex III deficiency, nuclear type 4
VARS2 Combined oxidative phosphorylation deficiency 20
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies
WFS1 Deafness, autosomal dominant 6/14/38; Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant; Cataract 41; Diabetes mellitus, noninsulin-dependent, association with
XPNPEP3 Nephronophthisis-like nephropathy 1
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

Mitochondrial Diseases

Published 02/06/2015

Mitochondrial Diseases
Mitochondrial genome sequencing

Lab method: Next generation sequencing
Heteroplasmy less than 20% is not detectable by sequencing.
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

50-75 mg fresh frozen tissue (in case suspected mtDNA mutations may not be detected in DNA extracted from blood)
Tissue should be frozen immediately at collection, stored at -80°C and shipped on dry ice.
Ordering information: Go to online ordering or download sample submission form

Nuclear genes of NGS panel

Genes
(full
coding region):		 AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APTX, ATIC, ATP5F1A, ATP5F1E, ATP7B, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C12orf65, C19orf12, CA5A, CARS2, CASP8, CAT, CAVIN1, CEL, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA8 (APOPT1), COASY, COMT, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6A2, COX6B1, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNAJC3, DNM1L, EARS2, ECHS1, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX2 (FDX1L), FECH, FH, FKBP10, FLAD1, FOXRED1, FTH1, FXN, G6PC, GAMT, GARS1 (GARS), GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, GYS2, HADH, HADHA, HAMP, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS1, KIF1B, KRT5, L2HGDH, LAMP2, LARS1, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MICU1, MIP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSRB3, MTFMT, MTO1, MTPAP, MTRR, NADK2, NAGS, NARS2, NBAS,NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NNT, NR2F1, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO, PNPT1, POLG, POLG2, PPOX, PRODH, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS2, RDH11, REEP1, RMND1, RNASEH1, RNASEL, RPIA, RPL35A, RPS14, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SECISBP2, SERAC1, SETX, SFXN4, SLC16A1, SLC19A3, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC6A8, SLC9A6, SNAP29, SOD1, SOD2, SPAST, SPG7, SPR, SPTLC2, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TAZ, TCIRG1, TFAM, TFR2, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TMLHE, TPI1, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TWNK, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Single gene sequencing

Genes: ACADS, ACADVL
Lab method: Sanger sequencing, next generation sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

MELAS Syndrome targeted mutation analysis

Genes: MT-TL1
No of
detectable
markers:		 1 (m.3243A>G)
Lab method: Sanger sequencing
TAT: 1-2 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

120 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: DGUOK, MPV17, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Diagnosis of patients with phenotype characteristic for mitochondrial disease
2. Diagnosis of patients with family history suggestive for mitochondrial disease
3. Genetic counseling of individuals with mitochondrial disease and affected family members

Mitochondrial diseases are a genetically and clinically heterogeneous group of disorders that arise as a consequence of dysfunction of the mitochondrial respiratory chain. The estimate for the prevalence of all mitochondrial disorders 1:8500, but they are thought to be greatly under-diagnosed. Mitochondrial disorders can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). If nuclear gene defects may be inherited in an autosomal recessive or autosomal dominant manner, mtDNA defects are transmitted only maternally. As the female could have heteroplasmic mtDNA mutations, which could be transmitted unequally to her offspring, the sibs could exhibit considerable clinical variability.

Symptoms of the mitochondrial disease can begin at any age. Mitochondrial disorders may affect a single organ (e.g. Leber hereditary optic neuropathy, LHON) or involve multiple organ systems (e.g. Myoclonic epilepsy with ragged-red fibers, MERRF). Common clinical features of mitochondrial disorder include, for example muscle weakness, exercise intolerance, trouble with balance and coordination, sensorineural deafness, impaired vision, seizures and learning deficits, cardiomyopathy, diabetes mellitus, stunted growth, and a high incidence of mid- and late pregnancy loss.

References:

Wallace DC. Mitochondrial diseases in man and mouse. Science. 1999;283:1482–8.
Chinnery PF. Mitochondrial Disorders Overview. Pagon RA, Adam MP, Bird TD, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2013.
DiMauro S, Schon EA. Nuclear power and mitochondrial disease. Nat Genet. 1998;19:214–5.
Leonard JV, Schapira AVH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet. 2000a;355:299–304.
Leonard JV, Schapira AVH. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet. 2000b;355:389–94.

Panel of Mitochondrial Diseases at Asper Biotech

Published 04/12/2013

A new testing panel targeted to mitochondrial diseases is now available. The testing panel combines NGS, Sanger sequencing, and aCGH technology to examine alterations in mitochondrial genes, as well as in nuclear genes associated with mitochondrial disorders.

The tests can be ordered separately or as a set of several tests according to specific indications. Ordering the set of tests gives 10% discount from the total price. Learn more: https://www.asperbio.com/mitochondrial-diseases