Inherited Metabolic Disorders

ARUP offers a test menu that accommodates more than 99 percent of pediatric testing requests for the diagnosis and management of conditions that affect the healthy growth and development of the pediatric patient. With a large percentage of testing performed at ARUP, children’s hospitals can be more operationally efficient with their referral testing.

Search our Full Laboratory Test Directory

Search our entire Laboratory Test Directory for all available pediatrics testing:

Test # Test Name Additional Information
0040033 Acylcarnitine Quantitative Profile, Plasma
0081170 Acylglycine, Quantitative, Urine
2009389 Amino Acids Quantitative by LC-MS/MS, Plasma
2009419 Amino Acids Quantitative by LC-MS/MS, Urine
0080137 Amino Acids Quantitative, CSF
0020043 Ammonia, Plasma
0051730 Biotinidase Deficiency (BTD) Sequencing Additional Technical Information
0051700 Biotinidase Deficiency (BTD), 5 Mutations
0093362 Biotinidase, Serum (with paired normal control)
0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing
0081110 Carnitine Panel
0080068 Carnitine, Free & Total (Includes Carnitine, Esterified)
0081308 Carnitine, Free and Total, Urine
0080065 Carnitine, Free, Plasma
0080067 Carnitine, Total, Plasma
0020408 Comprehensive Metabolic Panel
2002328 Creatine Disorders Panel, Plasma or Serum Additional Technical Information
2002333 Creatine Disorders Panel, Urine Additional Technical Information
0081106 Cystine Quantitative, Urine
0081105 Cystinuria Panel
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine
0081296 Galactose-1-Phosphate in Red Blood Cells
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations
2006697 GALT (Galactosemia) Sequencing Additional Technical Information
0020542 Glucose Tolerance Test
0020024 Glucose, Plasma or Serum
2001510 Glutarylcarnitine, Quantitative, Urine
0099869 Homocysteine, Total
0080860 Insulin Binding, Fibroblasts
0020421 Lipid Panel
0051205 Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations
0051758 Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing Additional Technical Information
2008831 Metabolic Storage Disorders Panel, Sequencing, 51 Genes
2008591 Methylenedioxypyrovalerone (MDPV) Quantitative, Urine
0081352 Mucopolysaccharides Electrophoresis and Quantitation, Urine
0081357 Mucopolysaccharides, Quantitative, Urine
2007496 Mucopolysaccharidosis Type 1, NRE (Sensi-Pro) Quantitative, Serum or Plasma
2007599 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma
2007488 Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Urine
0099289 Organic Acids, Plasma
0098389 Organic Acids, Urine
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication
0092458 Orotic Acid and Orotidine, Urine
0080336 Phenylalanine and Tyrosine, Plasma (monitoring only)
0080315 Phenylalanine Monitoring, Plasma (monitoring only)
2007406 Pipecolic Acid, Serum or Plasma
0080342 Pyridinoline and Deoxypyridinoline by HPLC, Urine
2007401 Succinylacetone, Quantitative, Urine
0080355 Tyrosine, Plasma
2002001 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing Additional Technical Information
2004250 Very Long-Chain and Branched-Chain Fatty Acids Profile