Test Code AAPD Amino Acids, Quantitative, Random, Urine
Performing Laboratory

Specimen Type
UrineAdditional Testing Requirements
Not all patients with homocystinuria will be detected by this assay. If homocystinuria is a concern, order CMMPP / Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma or HCYSP / Homocysteine, Total, Plasma or HCYSS / Homocysteine, Total, Serum in tandem with this test.
Necessary Information
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
3. If prolidase deficiency is a concern, indicate on the amino acid order "Pretreat with acid hydrolysis prior to analysis". The acid hydrolysis will break up in vitro proline and hydroxyproline containing dipeptides, which are cleaved in vivo by prolidase.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Specimen Volume: 2 mL
Collection Instructions: Collect a random urine specimen.
Specimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Urine | Frozen (preferred) | 70 days |
Refrigerated | 14 days |
Reference Values
Amino Acid |
Age groups |
|||||
< 2 months |
2-35 months |
3-6 years |
7-17 years |
≥18 years |
||
Taurine |
Tau |
<9026 |
<5604 |
<3680 |
<3954 |
<2134 |
Asparagine |
Asn |
<687 |
<1159 |
<238 |
<322 |
<204 |
Serine |
Ser |
<3202 |
<2741 |
<1386 |
<1116 |
<658 |
Hydroxyproline |
Hyp |
<2254 |
<1775 |
<89 |
<42 |
<48 |
Glycine |
Gly |
<13336 |
<9872 |
<4997 |
<4467 |
<4068 |
Glutamine |
Gln |
<2931 |
<3681 |
<1124 |
<1038 |
<764 |
Aspartic Acid |
Asp |
<290 |
<72 |
<46 |
<13 |
<12 |
Ethanolamine |
EtN |
<1589 |
<1765 |
<776 |
<536 |
<500 |
Histidine |
His |
<3806 |
<4578 |
<2596 |
<2294 |
<1508 |
Threonine |
Thr |
<1930 |
<1769 |
<496 |
<575 |
<384 |
Citrulline |
Cit |
<61 |
<67 |
<23 |
<17 |
<34 |
Sarcosine |
Sar |
<177 |
<52 |
<6 |
<10 |
<6 |
Beta-Alanine |
bAla |
<174 |
<79 |
<99 |
<139 |
<58 |
Alanine |
Ala |
<2856 |
<2360 |
<961 |
<794 |
<472 |
Glutamic Acid |
Glu |
<281 |
<210 |
<127 |
<63 |
<62 |
1-Methylhistidine |
1MHis |
<493 |
<470 |
<517 |
<453 |
<265 |
3-Methylhistidine |
3MHis |
<196 |
<662 |
<3346 |
<2027 |
<1920 |
Argininosuccinic Acid |
Asa |
<96 |
<103 |
<65 |
<57 |
<37 |
Homocitrulline |
Hcit |
<164 |
<169 |
<110 |
<107 |
<87 |
Arginine |
Arg |
<250 |
<147 |
<81 |
<42 |
<65 |
Alpha-aminoadipic Acid |
Aad |
<264 |
<397 |
<349 |
<138 |
<73 |
Gamma Amino-n-butyric Acid |
GABA |
<8 |
<14 |
<4 |
<3 |
<4 |
Beta-aminoisobutyric Acid |
bAib |
<2214 |
<2488 |
<840 |
<251 |
<265 |
Alpha-amino-n-butyric Acid |
Abu |
<58 |
<44 |
<37 |
<29 |
<19 |
Hydroxylysine |
Hyl |
<101 |
<87 |
<44 |
<22 |
<16 |
Proline |
Pro |
<1776 |
<1028 |
<29 |
<42 |
<98 |
Ornithine |
Orn |
<344 |
<238 |
<228 |
<291 |
<193 |
Cystathionine |
Cth |
<118 |
<53 |
<23 |
<24 |
<33 |
Cystine |
Cys |
<486 |
<285 |
<111 |
<84 |
<142 |
Lysine |
Lys |
<2217 |
<1321 |
<814 |
<463 |
<295 |
Methionine |
Met |
<76 |
<45 |
<24 |
<22 |
<15 |
Valine |
Val |
<308 |
<258 |
<119 |
<91 |
<73 |
Tyrosine |
Tyr |
<453 |
<603 |
<289 |
<371 |
<155 |
Isoleucine |
Ile |
<99 |
<131 |
<52 |
<29 |
<26 |
Leucine |
Leu |
<286 |
<215 |
<87 |
<70 |
<64 |
Phenylalanine |
Phe |
<342 |
<306 |
<178 |
<123 |
<98 |
Tryptophan |
Trp |
<241 |
<329 |
<222 |
<218 |
<140 |
Allo-isoleucine |
AlloIle |
<3 |
<6 |
<1 |
<2 |
<4 |
All results reported as nmol/mg creatinine.
Day(s) Performed
Monday through Friday
CPT Code Information
82139
Clinical Information
Amino acids are the basic structural units that comprise proteins and are found throughout the body. Many inborn errors of amino acid metabolism that affect amino acid transport or metabolism have been identified, such as phenylketonuria and tyrosinemia. Amino acid disorders can manifest at any age, but most become evident in infancy or early childhood. These disorders result in the accumulation or the deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the specific amino acid disorder.
The clinical presentation is dependent upon the specific amino acid disorder. In general, affected patients may experience failure to thrive, neurologic symptoms, digestive problems, dermatologic findings, and physical and cognitive delays. If not diagnosed and treated promptly, amino acid disorders can result in intellectual disabilities and, possibly, death.
In addition, amino acid analysis may have clinical importance in the evaluation of several acquired conditions including endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, kidney failure, and burns. General elevations in urine amino acid levels, called aminoaciduria, can be seen in disorders with amino acid transport defects, such as lysinuric protein intolerance and Hartnup disease, as well as in conditions with renal tubular dysfunction including Lowe syndrome and Dent disease.
Report Available
3 to 5 daysReject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Testing Algorithm
Testing includes quantitation of the following amino acids: taurine, threonine, serine, asparagine, hydroxyproline, glutamic acid, glutamine, aspartic acid, ethanolamine, sarcosine, proline, glycine, alanine, citrulline, alpha-aminoadipic acid, alpha-amino-n-butyric acid, valine, cystine, cystathionine, methionine, isoleucine, leucine, tyrosine, phenylalanine, beta-alanine, beta-aminoisobutyric acid, ornithine, lysine, 1-methylhistidine, histidine, 3-methylhistidine, argininosuccinic acid, allo-isoleucine, homocitrulline, gamma-amino-n-butyric acid, hydroxylysine, tryptophan, and arginine.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Portions of this test are covered by patents held by Quest Diagnostics
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.