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25683 Amino Acids, Quantitative, CSF (AACSF)

Amino Acids, Quantitative, CSF (AACSF)
Test Code: AACSFSO
Synonyms/Keywords

​NKH (Nonketotic Hyperglycinemia)
Nonketotic Hyperglycinemia (NKH)
Serine Biosynthesis Defects
Glycine encephalopathy

C AACSFSO

Amino Acids Qnt, CSF (AACSF)

Test Components
​Includes quantitation of the following amino acids: phosphoserine, phosphoethanolamine, taurine, threonine, serine, hydroxyproline, asparagine, glutamic acid, 1-methylhistidine, 3-methylhistidine, argininosuccinic acid, carnosine, anserine, 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.
Useful For
​Evaluating patients with possible inborn errors of amino acid metabolism, in particular nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly drawn plasma specimens.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No ​CSF ​Sterile vial ​0.2 mL ​0.1 mL
Collection Processing Instructions

Collect specimen from second collection vial.  

1. Patient's age is required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information

Additional 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 AACSF / Amino Acids, Quantitative, Spinal Fluid) should be collected at the same time. 

Specimen Stability Information
Specimen Type Temperature Time
​CSF ​Frozen ​14 days
Rejection Criteria

​All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Interference

​Proper specimen collection and handling are crucial to achieve reliable results. Blood contamination can interfere with test results.

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday through Friday 3 to 5 days ​Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reference Lab
Reference Range Information
Performing Location Reference Range
​Mayo Clinic Laboratories ​Please see Mayo Clinic Laboratories website for age specific reference ranges.  
Interpretation

​When no significant abnormalities are detected, a simple descriptive interpretation is provided. When abnormal results are detected, a detailed interpretation is provided. 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, and the telephone number to reach one of the laboratory directors in case the referring physician has additional questions.

Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82139
Synonyms/Keywords

​NKH (Nonketotic Hyperglycinemia)
Nonketotic Hyperglycinemia (NKH)
Serine Biosynthesis Defects
Glycine encephalopathy

C AACSFSO

Amino Acids Qnt, CSF (AACSF)

Test Components
​Includes quantitation of the following amino acids: phosphoserine, phosphoethanolamine, taurine, threonine, serine, hydroxyproline, asparagine, glutamic acid, 1-methylhistidine, 3-methylhistidine, argininosuccinic acid, carnosine, anserine, 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.
Ordering Applications
Ordering Application Description
​COM​Amino Acids, Qnt, CSF (AACSF)
​Cerner​Amino Acids, Qnt, CSF (AACSF)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No ​CSF ​Sterile vial ​0.2 mL ​0.1 mL
Collection Processing

Collect specimen from second collection vial.  

1. Patient's age is required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information

Additional 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 AACSF / Amino Acids, Quantitative, Spinal Fluid) should be collected at the same time. 

Specimen Stability Information
Specimen Type Temperature Time
​CSF ​Frozen ​14 days
Rejection Criteria

​All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Interference

​Proper specimen collection and handling are crucial to achieve reliable results. Blood contamination can interfere with test results.

Useful For
​Evaluating patients with possible inborn errors of amino acid metabolism, in particular nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly drawn plasma specimens.
Test Components
​Includes quantitation of the following amino acids: phosphoserine, phosphoethanolamine, taurine, threonine, serine, hydroxyproline, asparagine, glutamic acid, 1-methylhistidine, 3-methylhistidine, argininosuccinic acid, carnosine, anserine, 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.
Reference Range Information
Performing Location Reference Range
​Mayo Clinic Laboratories ​Please see Mayo Clinic Laboratories website for age specific reference ranges.  
Interpretation

​When no significant abnormalities are detected, a simple descriptive interpretation is provided. When abnormal results are detected, a detailed interpretation is provided. 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, and the telephone number to reach one of the laboratory directors in case the referring physician has additional questions.

For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday through Friday 3 to 5 days ​Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82139
For most current information refer to the Marshfield Laboratory online reference manual.