Biochemical Genetics
Amino Acid Metabolic Screen, Urine
Background:
This diagnostic panel includes a series of qualitative urine assays designed to detect a range of inborn errors of metabolism. Panel components include mucopolysaccharide screen, qualitative amino acids, cystine screen, tyrosine metabolites, creatinine screen, and UA.
Methodology:
- Urine dipstick for pH, glucose, ketones, protein, heme, urobilinogen, and bilirubin
- Qualitative assay using dinitrophenylhydrazine for maple syrup urine disease (MSUD)
- Qualitative assay using ferric chloride for phenylketonuria (PKU)
- Qualitative assay using cyanide-nitroprusside for detection of sulfur-containing amino acids such as homocystine or cysteine
- Qualitative assay using Ehrlich’s aldehyde reagent for detection of porphobilinogen or urobilinogen in hereditary porphyria
- Qualitative assay using nitrosonaphthol for detection of tyrosine metabolites in hereditary tyrosinemia or Hartnup disease
- Qualitative assay of urine amino acids by paper chromatography
Specimen Requirements:
Urine: 10-15 mL, clean catch spot specimen or aliquot from a timed urine specimen
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Every Two Weeks
Turn Around Time:
7-14 days
Shipment Sensitivity Requirements:
- Freeze specimen, package in styrofoam shipper with ample dry ice to keep frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services at (855) 535-1522 for shipping kits and instructions.
References:
Additional Info: