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GTR Home > Laboratories > Translational Metabolic Laboratory

Translational Metabolic Laboratory

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

Personnel

Conditions and tests

  • 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
  • Cytochrome-c oxidase deficiency disease6 tests
  • 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 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

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • ISO15189, Number: EN ISO 15189:2012, Expiration date: 2025-10-01

Participation in external programs

Standardization programs

  • Mutation-specific Databases

Data exchange Programs

  • Mutation-specific Databases

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.