Test Overview
Clinical Utility
For cerebral aminoacidopathies, particularly defects affecting the glycine cleavage enzyme (nonketotic hyperglycemia (NKH)) and serine deficiency.
Serum/plasma and CSF are required for interpretation of results. Note that fewer amino acids are tested in the CSF specimen – refer to the sample report.
Method
Ultraperformance liquid chromatography (UPLC)
Result Included
1-Methylhistidine; 3-Methylhistidine; Alanine; Alloisoleucine; Alpha-aminoadipic acid; Alpha-amino-n-butyric acid; Amino Acids Comment; Anserine; Arginine; Asparagine; Aspartate; Beta-Alanine; Beta-aminoisobutyric acid; Carnosine; Citrulline; Cystathionine; Cystine; Ethanolamine/ARS/Saccharopine; GABA/Homocitrulline; Glutamate; Glutamine; Glycine; Histadine; Hydroxylysine-1; Hydroxylysine-2; Hydroxyproline; Isoleucine; Leucine; Lysine; Methionine; Ornithine; Phenylalanine; Phosphoethanolamine; Phosphoserine; Proline; Sarcosine; Serine; Taurine; Threonine; Tryptophan; Tyrosine; Valine
Specimen
Specimen Type
CSF and Serum/PlasmaContainers
Preferred Containers
CSF: Sterile Container<br>Plasma: Green Top (Li Heparin); Green top (Na Heparin)
Acceptable Containers
Red Top (no additive)
Volume
Sample Volume
CSF: 0.5 mL, Serum/Plasma: 1mL
Minimum Volume
CSF: 150 uL, Serum/Plasma: 200 uL
Collection & Handling
Collection Instructions
CSF and serum/plasma specimens must be collected within an hour of each other to facilitate interpretation of findings.
Handling Information
CSF: If sample is clear and free of red cells, freeze immediately in clean tube or vial. If sample is contaminated with red cells, spin down and transfer the clear supernatant to a clean tube or vial before freezing. Store and send frozen.
Serum/plasma: Separate and freeze within 1 hour. Store and send frozen.
Additional Information
Gel separators are not acceptable.
Stability
| Frozen |
|---|
| 30 days |
<b>CSF: If specimen thaws, it is unsuitable for analysis</b>
Rejection Criteria
| Criteria | Specification |
|---|---|
| Hemolysis | Present |
| Specimen | Not frozen and gel separators. |
Performance & Interpretation
Turnaround Time
8 days
Results
Sample Report
Referral Location
Canada
Interface & Setup
HL7 Interface Codes
| Order Code | Result Name | Result Codes | Units |
|---|---|---|---|
| AAQPRO | Phosphoserine | 62350 | umol/L |
| Hydroxyproline | 62351 | umol/L | |
| Histidine | 22843 | umol/L | |
| Phosphoethanolamine | 62352 | umol/L | |
| Asparagine | 62353 | umol/L | |
| 1-Methylhistidine | 62354 | umol/L | |
| Taurine | 62355 | umol/L | |
| 3-Methylhistidine | 62356 | umol/L | |
| Serine | 22851 | umol/L | |
| Glutamine | 22855 | umol/L | |
| Carnosine | 62357 | umol/L | |
| Arginine | 22837 | umol/L | |
| Glycine | 22842 | umol/L | |
| Anserine | 62358 | umol/L | |
| Ethanolamine/ARS/Saccharopine | 62359 | umol/L | |
| Aspartate | 22838 | umol/L | |
| Sarcosine | 62360 | umol/L | |
| Glutamate | 22841 | umol/L | |
| Citrulline | 22839 | umol/L | |
| Beta-Alanine | 62361 | umol/L | |
| Threonine | 22852 | umol/L | |
| Alanine | 22836 | umol/L | |
| GABA/Homocitrulline | 62362 | umol/L | |
| Alpha-aminoadipic acid | 62363 | umol/L | |
| Proline | 22850 | umol/L | |
| Beta-aminoisobutyric acid | 62364 | umol/L | |
| Hydroxyylysine 1 | 62365 | umol/L | |
| Hydroxylysine 2 | 62366 | umol/L | |
| Alpha-amino-n-butyric acid | 62367 | umol/L | |
| Cystathionine | 62368 | umol/L | |
| Ornithine | 22848 | umol/L | |
| Cystine | 22840 | umol/L | |
| Lysine | 22846 | umol/L | |
| Tyrosine | 22853 | umol/L | |
| Methionine | 22847 | umol/L | |
| Valine | 22854 | umol/L | |
| Isoleucine | 22844 | umol/L | |
| Alloisoleucine | 39540 | umol/L | |
| Leucine | 22845 | umol/L | |
| Phenylalanine | 22849 | umol/L | |
| Tryptophan | 62369 | umol/L | |
| Amino Acid Comment | 39544 | ||
| Histidine, CSF | 62917 | umol/L | |
| Asparagine, CSF | 62918 | umol/L | |
| Taurine, CSF | 62919 | umol/L | |
| Serine, CSF | 62920 | umol/L | |
| Glutamine, CSF | 62921 | umol/L | |
| Citrulline, CSF | 62925 | umol/L | |
| Threonine, CSF | 62926 | umol/L | |
| Alanine, CSF | 62927 | umol/L | |
| Proline, CSF | 62928 | umol/L | |
| Alpha-amino-n-butyric acid, CSF | 62929 | umol/L | |
| Ornithine, CSF | 62930 | umol/L | |
| Cystine, CSF | 62931 | umol/L | |
| Lysine, CSF | 62932 | umol/L | |
| Tyrosine, CSF | 62933 | umol/L | |
| Methionine, CSF | 62934 | umol/L | |
| Valine, CSF | 62935 | umol/L | |
| Isoleucine, CSF | 62936 | umol/L | |
| Leucine, CSF | 62937 | umol/L | |
| Phenylalanine, CSF | 62938 | umol/L | |
| Tryptophan, CSF | 62939 | umol/L | |
| Amino Acids CSF Comment | 62563 |
Test Version
Last Updated
2023-12-11