Amino Acids, Quantitative
Label Mnemonic: AMINOC
Epic Lab Code: LAB4626
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
CSF
Specimen Instructions:
Collect specimen from second collection vial. Send specimen in plastic vial.
Collection Medium:
CSF collection kit
Minimum:
0.1 mL of spinal fluid from second collection vial.
Rejection Criteria:
Specimens other than CSF.
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection.
Turn Around Time:
3 days upon receipt at reference laboratory (not reported on Saturday or Sunday)
Reference Range:
Age Groups CSF Amino Acid Referemce Values < or = 31 D 1-23 M 2-18 Y > 19 Years (nmol/mL) (n=73) (n=88) (n=189) (n=32) ----------------------------------------------------------------------- Phosphoserine (PSer) <1 <1 <1 <1 Phosphoethanolamine (PEtN) <15 <10 <8 <7 Taurine (Tau) 8-48 <28 <13 <20 Asparagine (Asn) 8-34 5-16 <10 5-20 Serine (Ser) 44-136 26-71 21-51 19-40 Hydroxyproline (Hyp) <7 <3 <1 <2 Glycine (Gly) 5-115 <33 <11 <35 Glutamine (Gln) 467-1832 301-1128 326-1092 380-1348 Aspartic Acid (Asp) <1 <1 <1 <2 Ethanolamine (EtN) 11-193 7-155 7-153 7-153 Histidine (His) 11-70 9-28 9-21 9-28 Threonine (Thr) 32-143 11-77 14-38 23-57 Citrulline (Cit) <11 <6 <3 <9 Sarcosine (Sar) <1 <1 <1 <1 Beta-alanine (bAla) <26 <25 <25 <25 Alanine (Ala) 24-124 16-53 12-34 19-60 Glutamic Acid (Glu) <12 <3 <1 <4 1-Methylhistidine (1MHis) <3 <1 <2 <3 3-Methylhistidine (3MHis) <4 <1 <1 <2 Argininosuccinic Acid (Asa) <1 <2 <1 <1 Carnosine (Car) <1 <1 <1 <1 Anserine (Ans) <9 <9 <7 <3 Homocitrulline (Hcit) <3 <1 <1 <1 Arginine (Arg) 5-39 11-35 11-27 11-32 Alpha-aminoadipic <1 <1 <1 <1 Acid (Aad) Gamma-amino-n-butyric <1 <1 <1 <1 Acid (GABA) Beta-aminoisobutyric <1 <1 <1 <1 Acid (bAib) Alpha-amino-n-butyric <15 <6 <5 <14 Acid (Abu) Hydroxylysine (Hyl) <1 <1 <1 <1 Proline (Pro) <17 <6 <2 <6 Ornithine (Orn) <24 <12 <6 <11 Cystathionine (Cth) <1 <2 <1 <1 Cystine (Cys) <2 <2 <1 <1 Lysine (Lys) 11-63 9-33 10-25 13-42 Methionine (Met) <43 <9 <6 <10 Valine (Val) 14-61 9-28 8-20 11-40 Tyrosine (Tyr) 8-83 5-24 <17 5-17 Homocystine (Hcy) <1 <1 <1 <1 Isoleucine (Ile) <27 <13 <8 <17 Leucine (Leu) 12-41 6-21 7-16 7-29 Phenylalanine (Phe) 7-40 5-18 <12 7-21 Tryptophan (Trp) <12 <6 <4 <4 Allo-isoleucine (AlloIle) <3 <2 <2 <2
Interpretive Data:
When no significant abnormalities are detected, a simple descriptive interpretation is provided. When abnormal results are detected, a detailed interpretation is given. This interpretation includes an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, and 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 the reference laboratory or elsewhere, and the telephone number to reach one of the laboratory directors in case the referring physician has additional questions.
Comments:
Useful For:
Evaluating patients with possible inborn errors of amino acid metabolism, in particular nonketotic hyperglycemia and serine biosynthesis defects, especially when used in conjunction with concomitantly drawn plasma specimens.

Cautions:
Proper specimen collection and handling are crucial to achieve reliable results. Blood contamination can interfere with test results.
Methodology:
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Includes quantitation of the following amino acids: taurine, threonine, serine, asparagine, glutamic acid, glutamine, proline, glycine, alanine, citrulline, a-amino-n-butyric acid, valine, cystine, methionine, isoleucine, leucine, tyrosine, phenylalanine, ornithine, lysine, histidine, and arginine.
CPT Code:
82139