Comprehensive Metabolism Panel

Comprehensive Metabolism Panel

Comprehensive Metabolism Panel includes a 354 gene test for genetic diagnostics of patients with clinical suspicion of inborn error of metabolism.

Most inborn errors of metabolism are inherited mostly in AR manner (AD and X-linked inheritance are possible). This Panel includes Aicardi-Goutieres Syndrome Panel, Coenzyme q10 Deficiency Panel, Congenital and Familial Lipodystrophy Panel, Congenital Disorders of Glycosylation Panel, Creatine Metabolism Deficiency Panel, Cystinuria Panel, Fatty Acid Oxidation Syndrome Panel, Glucogen Storage Disorder Panel, Hereditary Hemochromatosis Panel, Hyperammonemia and Urea Cycle Disorder Panel, Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel, Hyperphenylalaninemia Panel, Hypomagnesemia Panel, Lysosomal Disorders and Mucopolysaccharidosis Panel, Metabolic Myopathy and Rhabdomyolysis Panel, Mitochondrial DNA Depletion Syndrome Panel, Organic Acidemia and Acidurina and Cobalamin Deficiency Panel, Periodic Paralysis Panel, Peroxisomal Disorder Panel and Porphyria Panel.

About Metabolic Diseases

Metabolic disorders often have similar and overlapping symptoms. They may be difficult to subtype without definitive information on the causative mutations and genes. This Panel includes well over 300 genes - comprehensively enough to cover most of all known monogenic metabolic syndromes, deficiencies and diseases. Most phenotypes covered by this Panel result from mutations making specific enzymes defective in metabolic pathways. This results often in an accumulation of toxic intermediate products or loss of specific end products required in metabolic pathways. Additionally, conditions covered include those with imbalance in using, storing or converting energy.

Most inherited metabolic disorders are quite rare. However, considering them all together, the combined prevalence is estimated at 1:1000 or 1:2000 newborns. Some specific populations, where the genetic heterogeneity is smaller, may even have much higher numbers.

Gene Associated phenotypes Inheritance
HSD17B10 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic XL
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase deficiency AR
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency AR
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency AR
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency AR
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency AR
AUH 3-methylglutaconic aciduria AR
TAZ 3-Methylglutaconic aciduria, (Barth syndrome) XL
DPYD 5-fluorouracil toxicity AD/AR
SLC39A4 Acrodermatitis enteropathica AR
ACAD9 Acyl-CoA dehydrogenase family, deficiency AR
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency AR
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency AR
ACADVL Acyl-CoA dehydrogenase, very long chain, deficiency AR
ADSL Adenylosuccinase deficiency AR
ABCD1 Adrenoleukodystrophy XL
PEX5 Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorder AR
PEX13 Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder AR
PEX26 Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder AR
PEX10 Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, Ataxia AR
RNASEH2A Aicardi-Goutières syndrome AR
RNASEH2B Aicardi-Goutières syndrome AR
RNASEH2C Aicardi-Goutières syndrome AR
SAMHD1 Aicardi-Goutières syndrome AR
GMPPA Alacrima, achalasia, and mental retardation syndrome AR
ACAT1 Alpha-methylacetoacetic aciduria AR
AMACR Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect AR
ACY1 Aminoacylase 1 deficiency AR
TRPM7 Amyotrophic lateral sclerosis-parkinsonism-dementia complex AD/AR
SEC23B Anemia, dyserythropoietic congenital AR
ALAS2 Anemia, sideroblastic, Protoporphyria, erythropoietic XL
GATM Arginine:glycine amidinotransferase deficiency AR
ASL Argininosuccinic aciduria AR
ASPA Aspartoacylase deficiency (Canavan disease) AR
AGA Aspartylglucosaminuria AR
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia AR
COL2A1 Avascular necrosis of femoral head, Stickler syndrome, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia AD
BTD Biotinidase deficiency AR
CPS1 Carbamoylphosphate synthetase I deficiency AR
SLC22A5 Carnitine deficiency, systemic primary AR
CPT1A Carnitine palmitoyltransferase deficiency AR
CPT1B Carnitine palmitoyltransferase deficiency AD
CPT2 Carnitine palmitoyltransferase II deficiency AR
SLC25A20 Carnitine-acylcarnitine translocase deficiency AR
RYR1 Central core disease, Malignant hyperthermia, Minicore myopathy with external ophthalmoplegia, Centronuclear myopathy, Minicore myopathy, Multicore myopathy AD/AR
FOLR1 Cerebral folate deficiency AR
CLN3 Ceroid lipofuscinosis, neuronal AR
CLN5 Ceroid lipofuscinosis, neuronal AR
CLN6 Ceroid lipofuscinosis, neuronal AR
CLN8 Ceroid lipofuscinosis, neuronal AR
CTSD Ceroid lipofuscinosis, neuronal AR
MFSD8 Ceroid lipofuscinosis, neuronal AR
PPT1 Ceroid lipofuscinosis, neuronal AR
TPP1 Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia AR
SLC25A13 Citrin deficiency AR
ASS1 Citrullinemia AR
COQ2 Coenzyme Q10 deficiency AR
COQ6 Coenzyme Q10 deficiency AR
COQ9 Coenzyme Q10 deficiency AR
PDSS1 Coenzyme Q10 deficiency AR
PDSS2 Coenzyme Q10 deficiency AR
ADCK3 Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia AR
ACSF3 Combined malonic and methylmalonic aciduria AR
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia XL
ALG1 Congenital disorder of glycosylation AR
ALG3 Congenital disorder of glycosylation AR
ALG6 Congenital disorder of glycosylation AR
ALG8 Congenital disorder of glycosylation AR
ALG9 Congenital disorder of glycosylation AR
ALG11 Congenital disorder of glycosylation AR
ALG12 Congenital disorder of glycosylation AR
ALG13 Congenital disorder of glycosylation XL
B4GALT1 Congenital disorder of glycosylation AR
COG1 Congenital disorder of glycosylation AR
COG4 Congenital disorder of glycosylation AR
COG5 Congenital disorder of glycosylation AR
COG6 Congenital disorder of glycosylation AR
COG7 Congenital disorder of glycosylation AR
COG8 Congenital disorder of glycosylation AR
DDOST Congenital disorder of glycosylation AR
DOLK Congenital disorder of glycosylation AR
DPM1 Congenital disorder of glycosylation AR
DPM2 Congenital disorder of glycosylation AR
DPM3 Congenital disorder of glycosylation AR
MGAT2 Congenital disorder of glycosylation AR
MOGS Congenital disorder of glycosylation AR
MPDU1 Congenital disorder of glycosylation AR
MPI Congenital disorder of glycosylation AR
PGM1 Congenital disorder of glycosylation AR
PMM2 Congenital disorder of glycosylation AR
RFT1 Congenital disorder of glycosylation AR
RPN2 Congenital disorder of glycosylation AD/AR
SLC35A1 Congenital disorder of glycosylation AR
SLC35A2 Congenital disorder of glycosylation XL
SSR4 Congenital disorder of glycosylation XL
STT3A Congenital disorder of glycosylation AR
STT3B Congenital disorder of glycosylation AR
TMEM165 Congenital disorder of glycosylation AR
SLC35C1 Congenital disorder of glycosylation, Leukocyte adhesion deficiency AR
ALG2 Congenital disorder of glycosylation, Myasthenic syndrome, congenital AR
DPAGT1 Congenital disorder of glycosylation, Myasthenic syndrome, congenital AR
HNF4A Congenital hyperinsulinism, diazoxide-responsive, Maturity onset diabetes of the young, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young AD
CPOX Coproporphyria, Harderoporphyria AD/AR
TCF4 Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome AD
HRAS Costello syndrome, Congenital myopathy with excess of muscle spindles AD
SLC6A8 Creatine deficiency syndrome XL
CAV3 Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome AD/Digenic
ATP6V0A2 Cutis laxa, Wrinkly skin syndrome AR
CTNS Cystinosis AR
SLC3A1 Cystinuria AR
SLC7A9 Cystinuria AR
LAMP2 Danon disease XL
TBC1D4 Diabetes mellitus, noninsulin-dependent AR
DLD Dihydrolipoyl dehydrogenase deficiency AR
LDB3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD
GCH1 Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia AD/AR
DYM Dyggve-Melchior-Clausen disease, Smith-McCort dysplasia AR
ADAR Dyschromatosis symmetrica hereditaria, Aicardi-Goutières syndrome AD/AR
EPM2A Epilepsy, progressive myoclonic AR
NHLRC1 Epilepsy, progressive myoclonic AR
ALDH7A1 Epilepsy, pyridoxine-dependent AR
KCNA1 Episodic ataxia/myokymia syndrome AD
GLA Fabry disease XL
SLC46A1 Folate malabsorption AR
FBP1 Fructose-1,6-bisphosphatase deficiency AR
FUCA1 Fucosidosis AR
CTSA Galactosialidosis AR
GBA Gaucher disease AR
ADAMTSL2** Geleophysic dysplasia AR
SLC12A3 Gitelman syndrome AR
OPA1 Glaucoma, normal tension AD
GCDH Glutaric aciduria AR
ETFA Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR
ETFB Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR
ETFDH Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR
AMT Glycine encephalopathy AR
GLDC Glycine encephalopathy AR
AGL Glycogen storage disease AR
ALDOA Glycogen storage disease AR
ENO3 Glycogen storage disease AR
G6PC Glycogen storage disease AR
GAA Glycogen storage disease AR
GBE1 Glycogen storage disease AR
GYG1 Glycogen storage disease AR
GYS1 Glycogen storage disease AR
GYS2 Glycogen storage disease AR
LDHA Glycogen storage disease AR
PFKM Glycogen storage disease AR
PGAM2 Glycogen storage disease AR
PHKA1 Glycogen storage disease XL
PHKA2 Glycogen storage disease XL
PHKB Glycogen storage disease AR
PHKG2 Glycogen storage disease AR
PYGL Glycogen storage disease AR
PYGM Glycogen storage disease AR
SLC37A4 Glycogen storage disease AR
PHKG1 Glycogen storage disease due to muscle phosphorylase kinase deficiency AD/AR
SLC2A2 Glycogen storage disease, Fanconi-Bickel syndrome, Neonatal diabetes mellitus AR
GLB1 GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) AR
GAMT Guanidinoacetate methyltransferase deficiency AR
OAT Gyrate atrophy of choroid and retina AR
HPD Hawksinuria, Tyrosinemia AD/AR
LMNA Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan ), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM) AD/AR
PEX1 Heimler syndrome AR
PEX6 Heimler syndrome AR
HAMP Hemochromatosis AR
HFE Hemochromatosis AR/Digenic
HFE2 Hemochromatosis AR
SLC40A1 Hemochromatosis AD
TFR2 Hemochromatosis AR
FH Hereditary leiomyomatosis and renal cell cancer AD
MFN2 Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease AD/AR
HLCS Holocarboxylase synthetase deficiency AR
CBS Homocystinuria due to cystathionine beta-synthase deficiency AR
MTHFR Homocystinuria due to MTHFR deficiency AR
MTRR Homocystinuria-megaloblastic anemia, cobalamin E AR
ANTXR2 Hyalinosis, infantile systemic, Fibromatosis, juveline hyaline AR
GLUD1 Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia AD/AR
ARG1 Hyperargininemia AR
GPHN Hyperekplexia, Molybdenum cofactor deficiency AD/AR
KCNJ11 Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Diabetes mellitus, transient neonatal AD/AR
ABCC8 Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal AD/AR
GCK Hyperinsulinemic hypoglycemia, familial, Diabetes mellitus, permanent neonatal AD/AR
SLC16A1 Hyperinsulinemic hypoglycemia, familial, Erythrocyte lactate transporter defect, Monocarboxylate transporter 1 deficiency AD/AR
INSR Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndrome AD/AR
UCP2 Hyperinsulinism AD/AR
SCN4A Hyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysis AD/AR
SLC30A10 Hypermanganesemia with dystonia, polycythemia, and cirrhosis AR
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome AR
PCBD1 Hyperphenylalaninemia, BH4-deficient AR
PTS Hyperphenylalaninemia, BH4-deficient AR
QDPR Hyperphenylalaninemia, BH4-deficient AR
PAH Hyperphenylalaninemia, non-PKU mild, Phenylketonuria AR
PRODH Hyperprolinemia AR
PRKAG2 Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome AD
AKT2 Hypoinsulinemic hypoglycemia with hemihypertrophy AD
CACNA1S Hypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis AD
CNNM1 Hypomagnesemia AD/AR
MMGT1 Hypomagnesemia AD/AR
NIPA2 Hypomagnesemia AD/AR
SLC41A2 Hypomagnesemia AD/AR
SLC41A3 Hypomagnesemia AD/AR
TRPM6 Hypomagnesemia, intestinal AR
CLDN16 Hypomagnesemia, renal AR
CLDN19 Hypomagnesemia, renal AR
CNNM2 Hypomagnesemia, renal AR
EGF Hypomagnesemia, renal AR
FXYD2 Hypomagnesemia, renal AD
MAGT1 Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia XL
GNE Inclusion body myopathy, Nonaka myopathy, Sialuria AD/AR
PRKAG3 Increased glyogen content in skeletal muscle AD
PPARG Insulin resistance, Lipodystrophy, familial, partial AD/Digenic (Severe digenic insulin resistance can be due to digenic mutations in PPP1R3A and PPARG)
FLNA Intestinal pseudoobstruction, neuronal/Congenital short bowel syndrome, Heterotopia, periventricular, Ehlers-Danlos variant, Cardiac valvular dysplasia XL
GIF Intrinsic factor deficiency AR
IVD Isovaleric acidemia AR
CNNM4 Jalili syndrome AR
SRD5A3 Kahrizi syndrome, Congenital disorder of glycosylation AR
GALC Krabbe disease AR
PSAP Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency, Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency AR
L2HGDH L-2-hydroxyglutaric aciduria AR
FLNB Larsen syndrome, Boomerang dysplasia, Atelosteogenesis, Spondylocarpotarsal synostosis syndrome AD/AR
PDHA1 Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency XL
AGPAT2 Lipodystrophy, congenital generalized AR
PTRF Lipodystrophy, congenital generalized AR
BSCL2 Lipodystrophy, congenital generalized, Encephalopathy, progressive AR
PLIN1 Lipodystrophy, familial partial AD
ACADL Long chain acyl-CoA dehydrogenase deficiency AD/AR
SLC7A7 Lysinuric protein intolerance AR
MANBA Mannosidosis, lysosomal AR
BCKDHA Maple syrup urine disease AR
BCKDHB Maple syrup urine disease AR
DBT Maple syrup urine disease AR
HNF1A Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell, Liver adenomatosis AD
MAN1B1 Mental retardation AR
TUSC3 Mental retardation AR
ARSA Metachromatic leukodystrophy AR
MMAA Methylmalonic acidemia AR
MMAB Methylmalonic acidemia AR
MTR Methylmalonic acidemia AR
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency AR
ABCD4 Methylmalonic aciduria and homocystinuria AR
LMBRD1 Methylmalonic aciduria and homocystinuria AR
MMACHC Methylmalonic aciduria and homocystinuria AR
MMADHC Methylmalonic aciduria and homocystinuria AR
CD320 Methylmalonic aciduria due to transcobalamin receptor defect AR
MCEE Methylmalonyl-CoA epimerase deficiency AR
SLC25A3 Micochondrial phosphate carrier deficiency AR
NDUFS1 Mitochondrial complex I deficiency AR
TMEM70 Mitochondrial complex V (ATP synthase) deficiency AR
DGUOK Mitochondrial DNA depletion syndrome AR
FBXL4 Mitochondrial DNA depletion syndrome AR
MPV17 Mitochondrial DNA depletion syndrome AR
SUCLA2 Mitochondrial DNA depletion syndrome AR
SUCLG1 Mitochondrial DNA depletion syndrome AR
TK2 Mitochondrial DNA depletion syndrome AR
TYMP Mitochondrial DNA depletion syndrome AR
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency AR
TIMM8A Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementia XL
MOCS1 Molybdenum cofactor deficiency AR
MOCS2 Molybdenum cofactor deficiency AR
GNPTAB Mucolipidosis AR
GNPTG Mucolipidosis AR
MCOLN1 Mucolipidosis AR
GUSB Mucopolysaccharidosis AR
HYAL1 Mucopolysaccharidosis AR
IDS Mucopolysaccharidosis XL
IDUA Mucopolysaccharidosis AR
ARSB Mucopolysaccharidosis (Maroteaux-Lamy) AR
GALNS Mucopolysaccharidosis (Morquio syndrome) AR
GNS Mucopolysaccharidosis (Sanfilippo syndrome) AR
NAGLU Mucopolysaccharidosis (Sanfilippo syndrome) AR
SGSH Mucopolysaccharidosis (Sanfilippo syndrome) AR
HGSNAT Mucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosa AR
SUMF1 Multiple sulfatase deficiency AR
LAMA2 Muscular dystrophy, congenital merosin-deficient, Schizophrenia AD/AR
LPIN1 Myoglobinuria, acute, recurrent AR
ISCU Myopathy with lactic acidosis AR
MYOT Myopathy, myofibrillar AD
CLCN1 Myotonia congenita, Myotonia congenita, Myotonia levior AD/AR
NAGS N-acetylglutamate synthase deficiency AR
NPC1 Niemann-Pick disease AR
NPC2 Niemann-pick disease AR
SMPD1 Niemann-Pick disease AR
TMEM126A Optic atrophy AR
OPA3 Optic atrophy, 3-methylglutaconic aciduria AD/AR
OTC Ornithine transcarbamylase deficiency XL
PDX1 Pancreatic agenesis, Neonatal diabetes mellitus AR
ATP13A2 Parkinson disease (Kufor-Rakeb syndrome) AR
CAV1 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Lipodystrophy, congenital generalized AD/AR
CTSC Periodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndrome AR
ACOX1 Peroxisomal acyl-CoA oxidase deficiency AR
HSD17B4 Perrault syndrome AR
C10ORF2 Perrault syndrome, Mitochondrial DNA depletion syndrome AR
B3GLCT Peters-plus syndrome AR
PCK1 Phosphoenolpyruvate carboxykinase 1 deficiency AD/AR
PCK2 Phosphoenolpyruvate carboxykinase 2 deficiency AD/AR
PGK1 Phosphoglycerate kinase 1 deficiency XL
POLG POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR
RBCK1 Polyglucosan body myopathy AR
UROD Porphyria cutanea tarda, Porphyria, hepatoerythropoietic AD/AR
PPOX Porphyria variegata AD/AR
ALAD Porphyria, acute hepatic AR
HMBS Porphyria, acute intermittent, Hydroxymethylbilane synthase deficiency AD/AR
UROS Porphyria, congenital erythropoietic AR
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions AD
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR
SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR
PCCA Propionic acidemia AR
PCCB Propionic acidemia AR
FECH Protoporphyria, erythropoietic AD/AR
ACAA1 Pseudo-Zellweger syndrome AD/AR
CTSK Pycnodysostosis AR
PC Pyruvate carboxylase deficiency AR
PDHX Pyruvate dehydrogenase E3-binding protein deficiency AR
PDHB Pyruvate dehydrogensae E1-beta deficiency AR
PEX7 Refsum disease AR
PHYH Refsum disease AR
HNF1B Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome AD
ZMPSTE24 Restrictive dermopathy, lethal, Mandibuloacral dysplasia with B lipodystrophy AD/AR
DHDDS Retinitis pigmentosa AR
GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic AR
HEXB Sandhoff disease AR
AGK Sengers syndrome AR
KCNJ2 Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation AD
NEU1 Sialidosis AR
SLC17A5 Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorder AR
GPC3 Simpson-Golabi-Behmel syndrome XL
IFIH1 Singleton-Merten syndrome AD
DHCR7 Smith-Lemli-Opitz syndrome AR
RAI1 Smith-Magenis syndrome AD
SPG7 Spastic paraplegia AR
C12ORF65 Spastic paraplegia, Combined oxidative phosphorylation deficiency AR
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosis AR
ANO10 Spinocerebellar ataxia AR
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency AR
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency AR
SUOX Sulfocysteinuria AR
HEXA Tay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiency AR
TCN2 Transcobalamin II deficiency AR
HADHB Trifunctional protein deficiency AR
HADHA Trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency AR
TREX1 Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndrome AD/AR
COL11A2 Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome AD/AR
WFS1 Wolfram syndrome AR
LIPA Wolman disease, Cholesterol ester storage disease AR
PEX2 Zellweger syndrome, Peroxisome biogenesis disorder AR
PEX3 Zellweger syndrome, Peroxisome biogenesis disorder AR
PEX11B Zellweger syndrome, Peroxisome biogenesis disorder AR
PEX12 Zellweger syndrome, Peroxisome biogenesis disorder AR
PEX16 Zellweger syndrome, Peroxisome biogenesis disorder AR
CKMT1A* AD/AR
CKMT1B AD/AR
CKMT2 AD/AR
SLC6A19 AR




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