Biochemical Genetics

ARUP performs testing for many metabolic disorders that affect the body’s ability to produce or breakdown amino acids, organic acids, and fatty acids. Early identification of a metabolic disorder may prevent death as well as other serious health problems; thus, the supplemental newborn screening and inborn errors of metabolism menu at ARUP includes tests for more than 30 metabolic disorders in addition to the state-required initial newborn screen. For some of these disorders, such as MCAD, DNA testing for causative mutations is also available.

Test # Test Name Additional Information Test Keywords
0040033 Acylcarnitine Quantitative Profile, Plasma Acylcarnitine ACYLCARN, Mitochondrial Diseases
0081110 Carnitine Panel Acylcarnitine CARNPAN, Mitochondrial, acylcarnitine, free and total carnitine
0081170 Acylglycine, Quantitative, Urine Acylglycine ACYLGLY
0080137 Amino Acids Quantitative, CSF Amino Acids CSFAA QNT
0080710 Amino Acids Quantitative, Plasma Amino Acids AA QNT
0080044 Amino Acids Quantitative, Urine Amino Acids UAA QNT
0093362 Biotinidase, Serum (with paired normal control) Biotinidase BTD ENZ, biotinidase enzyme, multiple carboxylase
0081110 Carnitine Panel Carnitine CARNPAN, Mitochondrial, acylcarnitine, free and total carnitine
0080512 Carnitine Transport, Fibroblasts Carnitine CARNIFIBRO
0080068 Carnitine, Free and Total, Plasma Carnitine CARN F&T, OCTN2, carnitine uptake
0081308 Carnitine, Free and Total, Urine Carnitine CARN URINE, OCTN2, carnitine uptake
0080065 Carnitine, Free, Plasma Carnitine CARN
0080067 Carnitine, Total, Plasma Carnitine CARN TOTAL
2002328 Creatine Disorders Panel, Plasma or Serum Creatine CRTN DIS P, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2002333 Creatine Disorders Panel, Urine Creatine CRTN DIS U, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2001875 Creatine Transport, Fibroblasts Creatine CRTN FIBRO, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
0081106 Cystine Quantitative, Urine Cystine QNT CYS U, Cystinuria
0081105 Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine Cystine CYS PAN
2005555 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI DD
2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI FGA
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS6
0081296 Galactose-1-Phosphate in Red Blood Cells Galactosemia GAL1P RBC, Galactosemia, GALT
0080125 Galactose-1-Phosphate Uridyltransferase, Whole Blood Galactosemia G1PUT, Galactosemia, GALT
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations Galactosemia GALTPAN, Galactosemia
2001510 Glutarylcarnitine, Quantitative, Urine Glutarylcarnitine C5DC URINE, GA1, glutaric acidemia type I
0080413 Homocystine, Quantitative, Urine Homocystine HOMOCYS-U, Homocystinuria, cystathione beta synthase
0080328 Hydroxyproline, Total, Urine Hydroxypoline HPR T
0080860 Insulin Binding, Fibroblasts Insulin Binding INSULFIBRO
2005255 Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) Methylmalonic Acid MMA METD
0081352 Mucopolysaccharides Electrophoresis and Quantitation, Urine Mucopolysaccharidoses (MPS) MPS SCREEN, Hurler, Hunter, Scheie, Sanfilippo, Maroteaux-Lamy, Morquio, Sly, glycosaminoglycan, GAG
0081357 Mucopolysaccharides, Quantitative, Urine Mucopolysaccharidoses (MPS) MPS QNT, Hurler, Hunter, Scheie, Sanfilippo, Maroteaux-Lamy, Morquio, Sly, glycosaminoglycan, GAG
0099289 Organic Acids, Plasma Organic Acids ORG AC P
0098389 Organic Acids, Urine Organic Acids ORG AC
0092458 Orotic Acid and Orotidine, Urine Orotic Acid OROTIC ACI, Canavan, N-acetylaspartic, alkaptonuria, homogentesic
0080336 Phenylalanine and Tyrosine, Plasma (monitoring only) Phenylalanine PHE/TYR, PKU
0080315 Phenylalanine Monitoring, Plasma (monitoring only) Phenylalanine QNTPHE, PKU
0080355 Tyrosine, Plasma (monitoring only) Tyrosine TYRO, Tyrosinemia
2004250 Very Long-Chain and Branched-Chain Fatty Acids Profile VLCFA VLCFA, peroxisomal biogenesis, PBD, zellweger, Infantile Refsum, adrenoleukodystrophy, XALD