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| Test # | Test Name | Additional Information | Specialty | Test Keywords |
|---|---|---|---|---|
| Acylcarnitine | ||||
| 0081110 | Carnitine Panel | Acylcarnitine | CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine | |
| 0040033 | Acylcarnitine Quantitative Profile, Plasma | Acylcarnitine | ACYLCARN 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| Acylglycine | ||||
| 0081170 | Acylglycine, Quantitative, Urine | Acylglycine | ACYLGLY MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS | |
| Amino Acids | ||||
| 2009389 | Amino Acids Quantitative by LC-MS/MS, Plasma | Amino Acids | AA QNT Amino Adipic Aciduria Aminoadipicaciduria Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Citrullinemia Type II Adult-Onset Type II Citrullinemia CTLN2 SLC25A13 Calcium-binding mitochondrial carrier protein Aralar2 Citrin Deficiency Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Histidinemia HAL Deficiency Histidase Deficiency HAL Histidine ammonia-lyase Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase Hydroxyprolinemia hydroxyproline Hyper-Beta-Alaninemia Hyperalaninemia alanine Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Isolated Persistent Hypermethioninemia Methionine Adenosyltransferase Deficiency MAT1A S-adenosylmethionine synthetase isoform type-1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Maple Syrup Urine Disease BCKD Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Maple Syrup Disease MSUD Maple Syrup Urine Disease Type 1A Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Ornithine Aminotransferase Deficiency Hyperornithinemia with Gyrate Atrophy of Choroid and Retina OAT Ornithine aminotransferase, mitochondrial Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Phenylalanine Hydroxylase Deficiency PAH Deficiency Hyperphenylalaninemia Phenylketonuria Variant PKU PAH Phenylalanine-4-hydroxylase PKU Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase | |
| 2009419 | Amino Acids Quantitative by LC-MS/MS, Urine | Amino Acids | UAA QNT Amino Adipic Aciduria Aminoadipicaciduria CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Hydroxyprolinemia | |
| 0080137 | Amino Acids Quantitative, CSF | Amino Acids | CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial | |
| Autism | ||||
| 2014314 | Autism and Intellectual Disability Comprehensive Panel | Autism | Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray | |
| 2014312 | Autism and Intellectual Disability Metabolic Panel | Autism | Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, SLC6A8, microarray | |
| Biotinidase | ||||
| 0093362 | Biotinidase, Serum (with paired normal control) | Biotinidase | BTD ENZ Biotinidase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Late-Onset Multiple Carboxylase Deficiency BTD Biotinidase Biotinidase enzyme | |
| Carnitine | ||||
| 0081110 | Carnitine Panel | Carnitine | CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine | |
| 0080068 | Carnitine, Free and Total, Plasma | Carnitine | OCTN2 CARN F&T Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 | |
| 0081308 | Carnitine, Free and Total, Urine | Carnitine | OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 | |
| 3006178 | Isobutyryl/butyryl-carnitine (C4) Quantitative, Urine | Carnitine | Carnitine, OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 | |
| Creatine | ||||
| 2002328 | Creatine Disorders Panel, Plasma or Serum | Creatine | GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS P Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1 | |
| 2002333 | Creatine Disorders Panel, Urine | Creatine | GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS U Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1 | |
| 2002343 | Creatine, Urine | Creatine | CRTN URINE | |
| 2002340 | Creatine, Serum or Plasma | Creatine | CRTN SP | |
| Cystine | ||||
| 0081105 | Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine | Cystine | CYS PAN CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 | |
| 0081106 | Cystine Quantitative, Urine | Cystine | QNT CYS U CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 | |
| Epilepsy | ||||
| 2013352 | Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma | Epilepsy | ||
| 2013355 | Pyridoxine-Dependent Epilepsy Panel, Urine | Epilepsy | ||
| Fabry Disease | ||||
| 2003204 | Alpha-Galactosidase, Serum | Fabry Disease | ||
| Fatty Acids | ||||
| 3003086 | Fatty Acids Profile, Essential in Red Blood Cells | Fatty Acids | FA PRO RBC | |
| 2013518 | Fatty Acids Profile, Essential Serum or Plasma | Fatty Acids | FA PRO SP | |
| Galactosemia | ||||
| 3001790 | Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC | Galactosemia | G1PUT Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase | |
| 0051175 | Galactosemia, (GALT) Enzyme Activity & 9 Mutations | Galactosemia | GALTPAN Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase | |
| 0081296 | Galactose-1-Phosphate in Red Blood Cells | Galactosemia | GAL1PRBC Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase | |
| Gaucher Disease | ||||
| 2014459 | Gaucher Disease (GBA), Enzyme Activity in Leukocytes | Gaucher Disease | Gaucher GBA glucocerebrosidase glucosidase | |
| Glutarylcarnitine | ||||
| 2001510 | Glutarylcarnitine, Quantitative, Urine | Glutarylcarnitine | C5DC URINE GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I | |
| Lysosomal Acid Lipase | ||||
| 2012266 | Lysosomal Acid Lipase Activity, Dried Blood Spot | Lysosomal Acid Lipase | Wolman Disease | |
| Methylmalonic Acid | ||||
| 2005255 | Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) | Methylmalonic Acid | MMA METD Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA | |
| Mucolipidosis IV | ||||
| 2012259 | Keratan Sulfate, Quantitative by LC-MS/MS, Urine | Mucolipidosis IV | Keratan Sulfate, Quantitative by LC-MS/MS, Urine, MPS IVa | |
| Mucopolysaccharidoses (MPS) | ||||
| 0081352 | Mucopolysaccharides Electrophoresis and Quantitation, Urine | Mucopolysaccharidoses (MPS) | MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII | |
| 0081357 | Mucopolysaccharides, Quantitative, Urine | Mucopolysaccharidoses (MPS) | MPS QNT Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB1 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII, A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI | |
| 0081352 | Mucopolysaccharides Electrophoresis and Quantitation, Urine | Mucopolysaccharidoses (MPS) | Mucopolysaccharidoses (MPS), MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII | |
| 0081357 | Mucopolysaccharides, Quantitative, Urine | Mucopolysaccharidoses (MPS) | Mucopolysaccharidoses (MPS), MPS QNT Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB1 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII, A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI | |
| 2011415 | Alpha-Iduronidase Enzyme Activity in Leukocytes | Mucopolysaccharidoses (MPS) | Mucopolysaccharidoses (MPS), A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI | |
| 3003566 | Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Serum or Plasma | Mucopolysaccharidoses (MPS) | Heparan Sulfate total and NRE, Serum/Plasma, HS non reducing end assay, MPS 1, MPS 2, MPS I, MPS II, MPS Type 1, MPS Type 2 | |
| 3003552 | Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Urine | Mucopolysaccharidoses (MPS) | heparan sulfate, HS non reducing end assay, MPS 1, MPS 2, MPS I, MPS II, MPS Type 1, MPS Type 2, Urine mucopolysaccharides total and NRE, Urine total and NRE mucopolysaccharides | |
| 3003487 | Mucopolysaccharidoses Type 4A/6 Total Chondroitin Sulfate and Dermatan Sulfate with NRE (Sensi-Pro®) Quantitative, Serum | Mucopolysaccharidoses (MPS) | CS non reducing end assay, DS non reducing end assay, MPS 4a, MPS 6, MPS type 4a, MPS type 6, Mucopolysaccharides, Total Chondroitin Sulfate, Total Dermatan Sulfate | |
| 3003539 | Mucopolysaccharidoses Type 4A/6 Total CS-DS and NRE (Sensi-Pro®) Quantitative, Urine | Mucopolysaccharidoses (MPS) | CS non reducing end assay, DS non reducing end assay, MPS 4a, MPS 6, MPS type 4a, MPS type 6, Mucopolysaccharides, Total Chondroitin Sulfate, Total Dermatan Sulfate | |
| Organic Acids | ||||
| 0098389 | Organic Acids, Urine | Organic Acids | ORG AC 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 5-Oxoprolinuria Glutathione Synthetase Deficiency Oxoprolinase Deficiency Pyroglutamicaciduria GSS Glutathione synthetase Pyroglutamic Aciduria Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Alkaptonuria Alcaptonuria HGD Homogentisate 1,2-dioxygenase Homogentisic acid Canavan Disease ASPA deficiency Aspartoacylase Deficiency ASPA Aspartoacylase NAA N-acetylaspartic acid N acetyl aspartic acid Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Glycerol Kinase Deficiency GKD Hyperglycerolemia GK Glycerol kinase Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Hyperoxaluria, Primary, Type 1 Alanine-Glyoxylate Aminotransferase Deficiency Glycolic Aciduria Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency AGXT Serine--pyruvate aminotransferase oxalate Isovaleric Acidemia IVD Isovaleryl-CoA dehydrogenase, mitochondrial IVA Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Malonyl-CoA Decarboxylase Deficiency Malonic Aciduria MLYCD Malonyl-CoA decarboxylase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Mevalonicaciduria Mevalonate Kinase Deficiency MVK Mevalonate kinase mevalonic acid Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Succinic Semialdehyde Dehydrogenase Deficiency 4-Hydroxybutyric Aciduria Gamma-Hydroxybutyric Aciduria SSADH Deficiency ALDH5A1 Succinate-semialdehyde dehydrogenase, mitochondrial Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| Orotic Acid | ||||
| 3000704 | Orotic Acid, Urine | Orotic Acid | OROTIC ACI Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Orotic Aciduria UMPS Uridine 5'-monophosphate synthase | |
| Peroxisomal Disorders | ||||
| 2004250 | Very Long-Chain and Branched-Chain Fatty Acids Profile | Peroxisomal Disorders | VLCFA Adrenoleukodystrophy, X-Linked X-ALD Adrenomyeloneuropathy ABCD1 ATP-binding cassette sub-family D member 1 XALD X ALD ABCD 1 Peroxisomal Bifunctional Enzyme Deficiency HSD17B4 Peroxisomal multifunctional enzyme type 2 Pseudoneonatal Adrenoleukodystrophy Peroxisomal Acyl-CoA Oxidase Deficiency ACOX1 Peroxisomal acyl-coenzyme A oxidase 1 Refsum Disease Adult Refsum Disease Hereditary Motor and Sensory Neuropathy IV Phytanic Acid Oxidase Deficiency Phytanic Acid Storage Disease Refsum Syndrome PEX7-Related Refsum Disease PHYH-Related Refsum Disease PEX7 Peroxisomal targeting signal 2 receptor PHYH Phytanoyl-CoA dioxygenase, peroxisomal Zellweger Syndrome Spectrum Neonatal Adrenoleukodystrophy Refsum Disease, Infantile Zellweger Syndrome PEX1 Peroxisome biogenesis factor 1 PEX10 Peroxisome assembly protein 10 PEX12 Peroxisome assembly protein 12 PEX13 Peroxisomal membrane protein PEX13 PEX14 Peroxisomal membrane protein PEX14 PEX16 Peroxisomal membrane protein PEX16 PEX19 Peroxisomal biogenesis factor 19 PEX2 Peroxisome assembly factor 1 PEX26 Peroxisome assembly protein 26 PEX3 Peroxisomal biogenesis factor 3 PEX5 Peroxisomal targeting signal 1 receptor PEX6 Peroxisome assembly factor 2 ZSS NALD IRD Infantile Refsum | |
| Phenylalanine | ||||
| 0080336 | Phenylalanine and Tyrosine, Plasma (monitoring only) | Phenylalanine | PHE/TYR, PKU | |
| 0080315 | Phenylalanine Monitoring, Plasma (monitoring only) | Phenylalanine | QNTPHE, PKU | |
| Pipecolic Acid | ||||
| 2007406 | Pipecolic Acid, Serum or Plasma | Pipecolic Acid | PIPECOL SP, peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD Peroxisome Biogenesis, ZSS, NALD, IRD | |
| 2008131 | Pipecolic Acid, Urine | Pipecolic Acid | PIPECOL U, Peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD | |
| Pompe Disease | ||||
| 2014463 | Pompe Disease (GAA), Enzyme Activity in Leukocytes | Pompe Disease | ||
| Succinylacetone | ||||
| 2007401 | Succinylacetone, Quantitative, Urine | Succinylacetone | Tyrosinemia Type I, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase, Hepatorenal, SUAC URINE | |
| Tyrosine | ||||
| 0080355 | Tyrosine, Plasma | Tyrosine | TYRO, Tyrosinemia | |
