|Includes:||PTAUR, PPEA, ASPP, PHYPRO, THRP, SERP, PASN, PPGLU, GLNP, SARCP, PROLP, GLYP, ALAP, CITRP, VALIP, CYSTP, METP, 2CYSTP, ISOLP, LEUCP, TYRP, PHEP, TRYPP, HOMOP, ORNP, LYSP, HISP, ARGP|
|Department:||Biochemical Genetics Lab|
|Available:||Lab open Mon - Fri 7:30 AM - 4:00 PM. Specimens accepted daily, 24 hours. Specimens batched and test run as needed.|
|Turnaround:||Routine 4 days; STAT 24 hours|
|Specimen:||Blood (10-12 hour fasting preferred)|
|Container:||Sodium heparin preferred, lithium heparin accepted|
|Temperature:||Give specimen to send-out tech (1st shift) or core lab tech (2nd/3rd shift, weekends, holidays). Spin, remove and freeze plasma at -20 degrees C. Specimen should not be left at room temperature for more than 2 hours.|
|Rejection:||Hemolyzed specimens may show increases in taurine, phosphoethanolamine, glutamic acid and aspartic acid and decreases in arginine, and cystine and should be avoided. Specimens should be as fresh as possible and processed immediately. All samples will be run. Sub-optimal handling is noted in report.|
|Normal:||Please see GE-1 in Appendix for normal ranges.|
|Uses:||Changes in amino acid profiles are sensitive indicators of a variety of physiological and pathological conditions. Amino acid analysis is used to determine abnormal levels of free amino acids. Examples of amino acid disorders include phenylketonuria (PKU), maple syrup urine disease (MSUD) and hyperphenylalaninemia. Other disorders where amino acid analysis may have clinical importance include liver, muscle and neoplastic diseases, infections, nutritional disturbances, stress/trauma and renal failure.|
|Limitations:||Interpretation of amino acid levels is dependent upon clinical information provided by the ordering physician. A Clinical Information for Amino Acid Analysis sheet should accompany the specimen and can be obtained by contacting the Genetics lab OR clinical information may be entered when ordering in Epic. Many drugs, especially antibiotics, may interfere with amino acid analysis. Protein intake, TPN, menstruation, pregnancy, sex and age may affect amino acid levels.|
|Method:||ion exchange chromatography|
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