Acylglycines, quantitative, urine-994

Test info

  
Acylglycines, quantitative, urine
  
994
  
LAB994
  
MSO
  
2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl Glycinuria
EE (Ethylmalonic Encephalopathy)
Ethylmalonic Encephalopathy (EE)
  
  • Diagnosis and monitoring for patients affected with 1 of the following inborn errors of metabolism:
    • Fatty Acid Oxidation Disorders
      • -Glutaric acidemia type II
      • -Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
      • -Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
      • -Short chain acyl-CoA dehydrogenase (SCAD) deficiency
    • Organic Acidurias
      • -2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency
      • -2-Methylbutyryl-CoA dehydrogenase deficiency
      • -3-Methylcrotonyl-CoA carboxylase deficiency
      • -3-Methylglutaconyl-CoA-hydratase deficiency
      • -Aminoacylase 1 deficiency
      • -Beta-ketothiolase deficiency
      • -Ethylmalonic encephalopathy
      • -Glutaryl-CoA dehydrogenase deficiency
      • -Isobutyryl-CoA dehydrogenase (IBD) deficiency
      • -Isovaleryl-CoA dehydrogenase deficiency
      • -Multiple carboxylase deficiency
      • Propionic acidemia

Specimen

  
Urine, random
  
  
10 mL
  
4 mL
Pediatric: If insufficient collection volume, submit as much specimen as possible in a single container; the laboratory will determine if volume is sufficient for testing.
  
  1. Transfer 10mL of urine (minimum 4mL) to a Urine transport vial/tube - 10mL (Mayo T068)
  2. Freeze
  

Frozen (preferred) - 416 days

Refrigerated - 9 days

Performance

  
Mayo Clinic Laboratories (AGU20): R-NX
  
Mo, We, Fri; 8am
  
5 - 14 days
  

Gas Chromatography-Mass Spectrometry (GC-MS) stable isotope dilution analysis

Clinical and Interpretive info

  

See report

  

When abnormal results are detected, a detailed interpretation is given including an overview of the results and of their significance; a correlation to available clinical information; elements of differential diagnosis; recommendations for additional biochemical testing and in vitro confirmatory studies (enzyme assay, molecular analysis); name and phone number of key contacts who may provide these studies at Mayo Clinic or elsewhere; and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Billing

  
82542

Tracking

  
06/05/2019
  
02/11/2021
  
02/11/2021