Translational Metabolic Laboratory

Translational Metabolic Laboratory, TML
Radboud University Medical Centre (RUMC)
Department: Department of Human Genetics
Geert Grooteplein 10
Nijmegen, Gelderland, Netherlands 6525 GA
Phone: +31 243614567
Fax: +31 243668754
Email: bert.vandenheuvel@radboudumc.nl
Online Contact: https://order.radboudumc.nl/en/genetics
Website: https://www.radboudumc.nl/en/patient-care
Affiliated with:
- Radboud UMC, https://www.radboudumc.nl/en/patient-care

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GTR Lab ID: 203400, Last updated:2024-01-30

Personnel

Director: B van den Heuvel, Lab Director
Phone: +31 243614428
Fax: +31 243618900
Email: bert.vandenheuvel@radboudumc.nl
Director: R Rodenburg, Lab Director
Phone: +31 243614567
Fax: +31 243668754
Email: richard.rodenburg@radboudumc.nl

Conditions and tests

352 conditions/phenotypes with 525 tests
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2-aminoadipic 2-oxoadipic aciduria1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-Methylglutaconic aciduria type 23 tests
3-Methylglutaconic aciduria type 31 test
3-methylglutaconic aciduria type 51 test
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
3-methylglutaconic aciduria, type VIIB1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acyl-CoA dehydrogenase 9 deficiency1 test
Adrenoleukodystrophy1 test
Adult polyglucosan body disease1 test
Afibrinogenemia1 test
Age related macular degeneration 136 tests
Age related macular degeneration 146 tests
Age related macular degeneration 44 tests
Age related macular degeneration 96 tests
ALG12-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation1 test
Alkaptonuria1 test
Aminoglycoside-induced deafness1 test
Arginine:glycine amidinotransferase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aspartylglucosaminuria1 test
Atransferrinemia2 tests
Atypical hemolytic-uremic syndrome with B factor anomaly23 tests
Atypical hemolytic-uremic syndrome with C3 anomaly23 tests
Atypical hemolytic-uremic syndrome with I factor anomaly22 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly22 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly21 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant sideroblastic anemia2 tests
Autosomal recessive cutis laxa type 2D1 test
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive Parkinson disease 141 test
B4GALT1-congenital disorder of glycosylation1 test
Basal laminar drusen2 tests
Benign recurrent intrahepatic cholestasis type 11 test
Biotinidase deficiency1 test
Brody myopathy2 tests
Cardiac valvular defect, developmental1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
Carney-Stratakis syndrome3 tests
Carnitine palmitoyl transferase 1A deficiency3 tests
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
CCDC115-CDG1 test
CFHR5 deficiency22 tests
Charcot-Marie-Tooth disease recessive intermediate B2 tests
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 61 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Cholestasis, intrahepatic, of pregnancy, 11 test
Classic dopamine transporter deficiency syndrome1 test
Classic homocystinuria1 test
Cobalamin C disease1 test
Coenzyme Q10 deficiency, primary, 11 test
Coenzyme Q10 deficiency, primary, 31 test
Combined malonic and methylmalonic acidemia1 test
Combined oxidative phosphorylation defect type 111 test
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 151 test
Combined oxidative phosphorylation defect type 171 test
Combined oxidative phosphorylation defect type 21 test
Combined oxidative phosphorylation defect type 201 test
Combined oxidative phosphorylation defect type 211 test
Combined oxidative phosphorylation defect type 242 tests
Combined oxidative phosphorylation defect type 251 test
Combined oxidative phosphorylation defect type 271 test
Combined oxidative phosphorylation defect type 41 test
Combined oxidative phosphorylation defect type 71 test
Combined oxidative phosphorylation defect type 81 test
Congenital disorder of deglycosylation1 test
Congenital dyserythropoietic anemia type 43 tests
Congenital dyserythropoietic anemia type type 1B3 tests
Congenital dyserythropoietic anemia, type I2 tests
Congenital dyserythropoietic anemia, type II4 tests
Congenital hyperammonemia, type I1 test
Congenital lactase deficiency1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Creatine transporter deficiency1 test
Cromer blood group system1 test
Cutis laxa with osteodystrophy1 test
Cystinuria1 test
D-2-hydroxyglutaric aciduria 22 tests
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of butyrylcholinesterase1 test
Deficiency of ferroxidase4 tests
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 514 tests
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 31 test
Diabetes-deafness syndrome maternally transmitted2 tests
Dilated cardiomyopathy 1GG1 test
DK1-congenital disorder of glycosylation1 test
DPAGT1-congenital disorder of glycosylation1 test
DPM3-congenital disorder of glycosylation1 test
Dystonia 51 test
Eculizumab, poor response to1 test
Epileptic encephalopathy, infantile or early childhood, 31 test
Extraoral halitosis due to methanethiol oxidase deficiency1 test
Fabry disease1 test
Factor H deficiency1 test
Familial cancer of breast1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Fructose-biphosphatase deficiency1 test
Fumarase deficiency1 test
Glycine N-methyltransferase deficiency1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1 test
Glycogen storage disease due to muscle beta-enolase deficiency3 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease type III1 test
Glycogen storage disease type X2 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII1 test
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
GNE myopathy1 test
GTP cyclohydrolase I deficiency1 test
Hemochromatosis type 15 tests
Hemochromatosis type 2A3 tests
Hemochromatosis type 2B3 tests
Hemochromatosis type 33 tests
Hemochromatosis type 43 tests
Hemochromatosis type 53 tests
Hemolytic anemia due to glucophosphate isomerase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 187 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13 tests
Hereditary fructosuria1 test
Hereditary intrinsic factor deficiency1 test
Hereditary spastic paraplegia 431 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 731 test
Hereditary spastic paraplegia 771 test
Histiocytoid cardiomyopathy2 tests
HNSHA due to aldolase A deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hurler syndrome1 test
Hyperammonemia, type III1 test
Hyperprolinemia type 21 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hypoalphalipoproteinemia, primary, 11 test
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 test
Imerslund-Grasbeck syndrome1 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis22 tests
Infantile cerebellar-retinal degeneration1 test
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia1 test
Infection-related hemolytic uremic syndrome1 test
Iron deficiency anemia1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Juvenile hemochromatosis1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke2 tests
Kearns-Sayre syndrome1 test
L-ferritin deficiency3 tests
Late-onset retinal degeneration1 test
Leber optic atrophy1 test
Leigh syndrome6 tests
Lesch-Nyhan syndrome1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
Lipoic acid synthetase deficiency1 test
Maple syrup urine disease3 tests
Maturity-onset diabetes of the young type 131 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
MERRF syndrome1 test
Metabolic disease1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Microcytic anemia3 tests
Microcytic anemia with liver iron overload3 tests
Mitochondrial complex 1 deficiency, nuclear type 101 test
Mitochondrial complex 1 deficiency, nuclear type 112 tests
Mitochondrial complex 1 deficiency, nuclear type 121 test
Mitochondrial complex 1 deficiency, nuclear type 131 test
Mitochondrial complex 1 deficiency, nuclear type 141 test
Mitochondrial complex 1 deficiency, nuclear type 151 test
Mitochondrial complex 1 deficiency, nuclear type 161 test
Mitochondrial complex 1 deficiency, nuclear type 171 test
Mitochondrial complex 1 deficiency, nuclear type 181 test
Mitochondrial complex 1 deficiency, nuclear type 21 test
Mitochondrial complex 1 deficiency, nuclear type 211 test
Mitochondrial complex 1 deficiency, nuclear type 221 test
Mitochondrial complex 1 deficiency, nuclear type 231 test
Mitochondrial complex 1 deficiency, nuclear type 241 test
Mitochondrial complex 1 deficiency, nuclear type 251 test
Mitochondrial complex 1 deficiency, nuclear type 261 test
Mitochondrial complex 1 deficiency, nuclear type 291 test
Mitochondrial complex 1 deficiency, nuclear type 31 test
Mitochondrial complex 1 deficiency, nuclear type 301 test
Mitochondrial complex 1 deficiency, nuclear type 311 test
Mitochondrial complex 1 deficiency, nuclear type 41 test
Mitochondrial complex 1 deficiency, nuclear type 51 test
Mitochondrial complex 1 deficiency, nuclear type 61 test
Mitochondrial complex 1 deficiency, nuclear type 71 test
Mitochondrial complex 1 deficiency, nuclear type 81 test
Mitochondrial complex 1 deficiency, nuclear type 91 test
Mitochondrial complex I deficiency, nuclear type 11 test
Mitochondrial complex II deficiency, nuclear type 14 tests
Mitochondrial complex III deficiency nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 31 test
Mitochondrial complex III deficiency nuclear type 61 test
Mitochondrial complex IV deficiency, nuclear type 16 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 22 tests
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
Mitochondrial disease1 test
Mitochondrial DNA deletion syndrome with progressive myopathy1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 131 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8a1 test
Mitochondrial DNA depletion syndrome 92 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mitochondrial myopathy with diabetes2 tests
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency2 tests
Mitochondrial non-syndromic sensorineural hearing loss1 test
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation1 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple mitochondrial dysfunctions syndrome 21 test
Myasthenic syndrome, congenital, 221 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myopathy, lactic acidosis, and sideroblastic anemia 13 tests
Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
Myopia 61 test
NARP syndrome1 test
Neural tube defects, folate-sensitive1 test
Neurodegeneration with brain iron accumulation 2B1 test
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Optic atrophy 111 test
Optic atrophy 31 test
Optic atrophy 91 test
Ornithine aminotransferase deficiency1 test
Ornithine carbamoyltransferase deficiency1 test
Orotic aciduria1 test
Orthostatic hypotension 11 test
Oxoglutaricaciduria2 tests
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
Pearson syndrome1 test
Permanent neonatal diabetes mellitus2 tests
Perrault syndrome 21 test
Perrault syndrome 41 test
PGM1-congenital disorder of glycosylation1 test
Phenylketonuria1 test
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
Plasminogen deficiency, type I1 test
PMM2-congenital disorder of glycosylation1 test
Pontocerebellar hypoplasia type 61 test
Primary CD59 deficiency1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
Progressive familial intrahepatic cholestasis type 11 test
Progressive sclerosing poliodystrophy1 test
Properdin deficiency, X-linked1 test
Propionic acidemia2 tests
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E2 deficiency1 test
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate dehydrogenase E3-binding protein deficiency4 tests
Pyruvate dehydrogenase phosphatase deficiency2 tests
Pyruvate kinase deficiency of red cells1 test
Rafiq syndrome1 test
Renal carnitine transport defect1 test
Retinitis pigmentosa 461 test
Schizophrenia1 test
Sengers syndrome1 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe congenital hypochromic anemia with ringed sideroblasts3 tests
Severe X-linked mitochondrial encephalomyopathy1 test
Sialidosis type 21 test
Sialuria1 test
Sideroblastic anemia 22 tests
Sideroblastic anemia 32 tests
Sitosterolemia1 test
SLC35A1-congenital disorder of glycosylation1 test
SLC35A2-congenital disorder of glycosylation1 test
Smith-Lemli-Opitz syndrome1 test
Spastic ataxia 31 test
Spastic ataxia 51 test
Spinocerebellar ataxia type 281 test
STING-associated vasculopathy with onset in infancy1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Tangier disease1 test
Thrombophilia due to thrombin defect1 test
Thrombotic thrombocytopenic purpura2 tests
TMEM165-congenital disorder of glycosylation1 test
Tricarboxylic acid cycle, defect of1 test
Trimethylaminuria1 test
Triosephosphate isomerase deficiency2 tests
Type 2 diabetes mellitus2 tests
UDPglucose-4-epimerase deficiency1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Wrinkly skin syndrome1 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
X-linked sideroblastic anemia 13 tests
X-linked sideroblastic anemia with ataxia3 tests

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