Order Code LABAACSF Amino Acids, Quantitative, Spinal Fluid
Additional Codes
Mayo Test Code: AACSF
EPIC Order Code: LABAACSF
Reporting Name
Amino Acids, QN, CSFUseful For
Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected plasma specimens
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen Type
CSFAdditional Testing Requirements
This test should be ordered in conjunction with AAQP / Amino Acids, Quantitative, Plasma. The specimens for both tests (AAQP / Amino Acids, Quantitative, Plasma and this test) should be collected at the same time.
Necessary Information
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information
Specimen Required
Container/Tube: Sterile vial
Specimen Volume: 0.2 mL
Collection Instructions: Collect specimen from second collection vial.
Specimen Minimum Volume
0.1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
CSF | Frozen | 14 days |
Reference Values
Amino Acid |
Age groups |
|||
≤31 days |
32 days-23 months |
2-18 years |
≥19 years |
|
Taurine (Tau) |
8-28 |
4-13 |
4-10 |
3-9 |
Asparagine (Asn) |
7-25 |
5-17 |
4-12 |
5-14 |
Serine (Ser) |
43-127 |
37-87 |
22-57 |
18-58 |
Hydroxyproline (Hyp) |
<12 |
<8 |
<3 |
<3 |
Glycine (Gly) |
<60 |
<27 |
<20 |
<28 |
Glutamine (Gln) |
447-1547 |
384-716 |
375-770 |
452-1283 |
Aspartic Acid (Asp) |
<12 |
<12 |
<12 |
<12 |
Ethanolamine (EtN) |
11-152 |
6-41 |
7-25 |
6-24 |
Histidine (His) |
19-63 |
12-32 |
9-26 |
12-36 |
Threonine (Thr) |
35-212 |
19-89 |
13-51 |
13-57 |
Citrulline (Cit) |
<6 |
<5 |
<4 |
<4 |
Sarcosine (Sar) |
<21 |
<21 |
<21 |
<21 |
Beta-alanine (bAla) |
<17 |
<17 |
<17 |
<17 |
Alanine (Ala) |
20-92 |
18-69 |
16-54 |
22-80 |
Glutamic Acid (Glu) |
<12 |
<4 |
<3 |
<2 |
1-Methylhistidine (1MHis) |
<5 |
<1 |
<1 |
<3 |
3-Methylhistidine (3MHis) |
<4 |
<1 |
<3 |
<5 |
Argininosuccinic Acid (Asa) |
<4 |
<4 |
<4 |
<4 |
Homocitrulline (Hcit) |
<1 |
<1 |
<1 |
<1 |
Arginine (Arg) |
7-37 |
11-36 |
13-30 |
14-32 |
Alpha-aminoadipic Acid (Aad) |
<2 |
<2 |
<2 |
<2 |
Gamma-amino-n-butyric Acid (GABA) |
<10 |
<10 |
<10 |
<10 |
Beta-aminoisobutyric Acid (bAib) |
<1 |
<1 |
<1 |
<1 |
Alpha-amino-n-butyric Acid (Abu) |
<21 |
<7 |
<5 |
<10 |
Hydroxylysine (Hyl) |
<1 |
<1 |
<1 |
<1 |
Proline (Pro) |
<14 |
<4 |
<4 |
<2 |
Ornithine (Orn) |
<32 |
<15 |
<12 |
<15 |
Cystathionine (Cth) |
<4 |
<1 |
<1 |
<2 |
Cystine (Cys) |
<3 |
<3 |
<3 |
<3 |
Lysine (Lys) |
16-67 |
17-41 |
13-45 |
23-54 |
Methionine (Met) |
<19 |
<7 |
<5 |
<12 |
Valine (Val) |
16-83 |
10-36 |
10-27 |
13-52 |
Tyrosine (Tyr) |
<70 |
<22 |
<16 |
<65 |
Isoleucine (Ile) |
2-30 |
2-14 |
3-11 |
3-17 |
Leucine (Leu) |
14-72 |
9-25 |
8-23 |
10-53 |
Phenylalanine (Phe) |
9-49 |
7-18 |
5-18 |
8-23 |
Tryptophan (Trp) |
<14 |
<14 |
<14 |
<14 |
Allo-isoleucine (AlloIle) |
<2 |
<2 |
<2 |
<2 |
All results reported in nmol/mL
Day(s) Performed
Monday through Friday
CPT Code Information
82139
Method Description
Quantitative analysis of amino acids (AA) is performed by liquid chromatography tandem mass spectrometry (LC-MS/MS). Patient samples are combined with isotopically labeled internal standard. Following protein precipitation, the supernatant is subjected to hydrophilic-interaction liquid chromatography for the separation of isomers with MS/MS detection of the underivatized amino acids. (Unpublished Mayo method)
Reject 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, hydroxyproline, asparagine, glutamic acid, 1-methylhistidine, 3-methylhistidine, argininosuccinic acid, homocitrulline, alpha-aminoadipic acid, gamma-amino-n-butyric acid, beta-aminoisobutyric acid, alpha-amino-n-butyric acid, hydroxylysine, glutamine, aspartic acid, ethanolamine, proline, glycine, alanine, citrulline, sarcosine, beta-alanine, alpha-amino-n-butyric acid, valine, cystine, methionine, isoleucine, leucine, tyrosine, phenylalanine, ornithine, cystathionine, tryptophan, allo-isoleucine, lysine, histidine, and arginine.
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Portions of this test are covered by patents held by Quest Diagnostics
Special Instructions
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.