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Alternate Name: |
Creatine, Purines, Pyrimidines, Amino Acids, Orotic Acid, Xanthine, UMS, quantitative amino acids, uric acid
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LIS Mnemonic: |
Meditech: UMS | HBO: 80100
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Specimen Type: |
Orange Top Sterile Container, Random Urine or 24h Urine Aliquot
2-10 mL
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Collection Information: |
Ship and Store frozen.
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Required Information: |
Date of birth
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Turnaround Time: |
30 days
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Additional Information: |
This is a panel of urine tests that includes: quantitation and interpretation of over 40 amino acids (Ultra-performance liquid chromatography, UPLC), quantitation and interpretation of over 20 purine and pyrimidine metabolites (UPLC-mass spectrometry), quantitation and interpretation of creatine and creatine:creatinine ratio (UPLC-mass spectrometry). Interpretation is by a Canadian College of Medical Geneticists certified Biochemical Geneticist.
Amino acid quantitation can give patterns suggestive of or diagnostic of: generalized aminoaciduria (renal Fanconi syndrome secondary to cystinosis, galactosemia, Lowe syndrome, etc.), dibasic aminoacidurias (lysinuric protein intolerance, cystinuria, lysinuria), iminoglycinuria (including glycinuria secondary to propionic acidemia, non-ketotic hyperglycinemia, hydroxyprolinemia, prolinemia), neutral aminoaciduria (Hartnup disease), some urea cycle defects (including HHH disease, argininemia, argininosuccinic aciduria, citrullinemia), hyper-B-alaninemia, maple syrup urine disease, homocystinuria, Hawkinsinuria, histidinemia, phenylketonuria (not diagnostic), hypophosphatasia.
Purine quantitation can give patterns suggestive of or diagnostic of: phosphoribosylpyrophosphate synthase deficiency/superactivity, adenylosuccinate lyase deficiency, adenosine deaminase deficiency, purine nucleoside phosphorylase deficiency, adenine phosphoribosyl transferase deficiency, hypoxanthine-guanine phosphoribosyl transferase deficiency, xanthine dehydrogenase/oxidase deficiency, molybdenum cofactor deficiency.
Pyrimidine quantitation can give patterns suggestive of or diagnostic of: uridine monophosphate synthase deficiency, thymidine phosphorylase deficiency, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinase deficiency, ureidopropionase deficiency.
A number of the metabolic disorders detected by this assay accumulate metabolites with low solubility that can crystallize (purines and pyrimidines) or form stones (cystine) in urine. The risk of precipitation is related more to the absolute concentration than the ratio of the concentration to creatinine concentration, so for these analytes the absolute concentration is reported.
Creatine and creatinine quantitation can give results suggestive of creatine synthesis or transport disorders.
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Method of Analysis: |
UPLC and Tandem Mass Spectrometry
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Test was Last Updated: |
11/6/2025
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Testing Laboratory: |
Biochemical Genetics
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Testing Site: |
MUMC
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Laboratory Processing Instructions: |
This is a test panel requiring 2 separate aliquots: UMSAA and UMSMS.
Aliquot minimum 2 mL urine. Provide as much as possible up to 10 mL.
Separate aliquots are required for each BCG test.
For low-volume specimens, aliquot all available urine into separate tubes for each test.
Store aliquots frozen in the designated MUMC Core Lab location
Low volume samples: bare minimum volume 100 uL
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LRC Specimen Requirement: |
Preferred Volume: 2-10 mL
Minimum Volume: 0.1 mL
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Store and ship frozen.
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