Test Catalog

Test Id : AAQP

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Amino Acids, Quantitative, Plasma

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluating patients with possible inborn errors of metabolism using plasma specimens

 

May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, kidney failure, and burns

 

Monitoring of patients treated for various inborn errors of metabolism or other causes of amino acid imbalances

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Testing includes quantitation of the following amino acids: taurine, threonine, serine, asparagine, glutamic acid, glutamine, proline, alanine, citrulline, alpha-amino-n-butyric acid, valine, cystine, methionine, isoleucine, leucine, tyrosine, phenylalanine, beta-alanine, ornithine, lysine, histidine, argininosuccinic acid, allo-isoleucine, arginine, hydroxyproline, glycine, aspartic acid, ethanolamine, sarcosine, 1-methylhistidine, 3-methylhistidine, homocitrulline, alpha-aminoadipic acid, gamma-amino-n-butyric acid, beta-aminoisobutyric acid, hydroxylysine, cystathionine, and tryptophan.

 

For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.

Method Name
A short description of the method used to perform the test

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Portions of this test are covered by patents held by Quest Diagnostics

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Amino Acids, QN, P

Aliases
Lists additional common names for a test, as an aid in searching

Maple Syrup Urine Disease (MSUD)

MSUD (Maple Syrup Urine Disease)

Isovaleric Acidemia

Methylmalonic Acidemia (MMA)

Mitochondrial Energy Metabolism (Primary Lactic Acidemias)

Nonketotic Hyperglycinemia (NKH)

Phenylketonuria (PKU)

Propionic Acidemia

Tyrosinemia, Type I

Urea Cycle Disorders

Arginase Deficiency

Argininemia

Argininosuccinic Acid

Argininosuccinic Acid Lyase Deficiency

Argininosuccinic Aciduria

Carbamoyl Phosphate Synthetase (CPS) Deficiency

Citrullinemia

N-acetyl Glutamate Synthase (NAGS) Deficiency

NAGS (N-acetyl Glutamate Synthetase)

Ornithine Transcarbamylase (OTC) Deficiency

OTC (Ornithine Transcarbamylase)

UCD (Urea Cycle Disorder)

Urea Cycle Disorder (AAUCD)

Maple syrup disease

Hyperphenylalaninemia

Tyrosinemia, type II

CPS (Carbamoyl Phosphate Synthetase)

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Testing includes quantitation of the following amino acids: taurine, threonine, serine, asparagine, glutamic acid, glutamine, proline, alanine, citrulline, alpha-amino-n-butyric acid, valine, cystine, methionine, isoleucine, leucine, tyrosine, phenylalanine, beta-alanine, ornithine, lysine, histidine, argininosuccinic acid, allo-isoleucine, arginine, hydroxyproline, glycine, aspartic acid, ethanolamine, sarcosine, 1-methylhistidine, 3-methylhistidine, homocitrulline, alpha-aminoadipic acid, gamma-amino-n-butyric acid, beta-aminoisobutyric acid, hydroxylysine, cystathionine, and tryptophan.

 

For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.

Specimen Type
Describes the specimen type validated for testing

Plasma

Ordering Guidance

Body fluids are not acceptable specimens for this test.

For testing urine specimens, order AAPD / Amino Acids, Quantitative, Random, Urine.

For testing spinal fluid specimens, order AACSF / Amino Acids, Quantitative, Spinal Fluid.

Additional Testing Requirements

Not all patients with homocystinuria/homocystinemia will be detected by this assay. For quantitation of total homocysteine, order CMMPP / Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma or HCYSP / Homocysteine, Total, Plasma in conjunction with this amino acids profile.

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Patient Preparation: Patient should fast overnight (4 hours minimum); infants should have specimen collected before next feeding (2-3 hours without total parenteral nutrition if possible).

Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube: Green top (sodium heparin)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions:

1. Collect specimen and place on wet ice. Note: Thrombin-activated tubes should not be used for collection.

2. Centrifuge immediately or within 4 hours of collection if the specimen is kept at refrigerated temperature.

3. Being careful to ensure that no buffy coat is transferred, aliquot plasma into a plastic vial and freeze.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

0.3 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Plasma Frozen 14 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluating patients with possible inborn errors of metabolism using plasma specimens

 

May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, kidney failure, and burns

 

Monitoring of patients treated for various inborn errors of metabolism or other causes of amino acid imbalances

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Testing includes quantitation of the following amino acids: taurine, threonine, serine, asparagine, glutamic acid, glutamine, proline, alanine, citrulline, alpha-amino-n-butyric acid, valine, cystine, methionine, isoleucine, leucine, tyrosine, phenylalanine, beta-alanine, ornithine, lysine, histidine, argininosuccinic acid, allo-isoleucine, arginine, hydroxyproline, glycine, aspartic acid, ethanolamine, sarcosine, 1-methylhistidine, 3-methylhistidine, homocitrulline, alpha-aminoadipic acid, gamma-amino-n-butyric acid, beta-aminoisobutyric acid, hydroxylysine, cystathionine, and tryptophan.

 

For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Amino acids are the basic structural units that comprise proteins and are found throughout the body. Many inborn errors of amino acid metabolism, such as phenylketonuria and tyrosinemia, have been identified. 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.

 

Treatment for amino acid disorders includes very specific dietary modifications. Nonessential amino acids are synthesized by the body, while essential amino acids are not and must be obtained through an individual's diet. Therapeutic diets are coordinated and closely monitored by a dietician or physician. They are structured to provide the necessary balance of amino acids with particular attention to essential amino acids and those that are abnormal in a particular disorder. Patients must pay close attention to the protein content in their diet and generally need to supplement with medical formulas and foods. Dietary compliance is monitored by periodic analysis of plasma amino acids.

 

In addition, plasma 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.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Amino acids

Age groups

<24 months

2-17 years

> or =18 years

Taurine (Tau)

31-354

32-181

21-123

Asparagine (Asn)

18-94

25-80

23-94

Serine (Ser)

59-224

53-166

55-146

Hydroxyproline (Hyp)

<121

<73

<38

Glycine (Gly)

80-500

80-500

80-500

Glutamine (Gln)

356-857

353-790

447-774

Aspartic Acid (Asp)

<48

<17

<13

Ethanolamine (EtN)

<70

<30

<20

Histidine (His)

46-147

56-119

61-120

Threonine (Thr)

49-358

48-205

73-325

Citrulline (Cit)

8-42

12-44

18-57

Sarcosine (Sar)

<20

<20

<20

b-Alanine (bAla)

<36

<36

<36

Alanine (Ala)

139-474

144-557

200-579

Glutamic Acid (Glu)

28-376

16-182

13-148

1-Methylhistidine (1MHis)

<12

<12

<12

3-Methylhistidine (3MHis)

<11

<30

<35

Argininosuccinic Acid (Asa)

<5

<5

<5

Homocitruline (Hcit)

<5

<2

<2

Arginine (Arg)

28-164

28-156

45-144

a-Aminoadipic Acid (Aad)

<4

<4

<4

g-Amino-n-butyric Acid (GABA)

<4

<4

<4

b-Aminoisobutyric Acid (bAib)

<9

<5

<5

a-Amino-n-butyric Acid (Abu)

<40

<40

<40

Hydroxylysine (Hyl)

<4

<4

<4

Proline (Pro)

102-342

99-389

107-383

Ornithine (Orn)

32-171

32-148

39-154

Cystathionine (Cth)

<4

<4

<4

Cystine (Cys)

6-131

3-151

8-310

Lysine (Lys)

83-304

61-291

105-335

Methionine (Met)

12-57

13-41

13-40

Valine (Val)

94-382

111-367

134-357

Tyrosine (Tyr)

27-188

36-133

36-113

Isoleucine (IIe)

23-149

26-150

29-153

Leucine (Leu)

59-213

51-216

79-217

Phenylalanine (Phe)

36-105

38-116

45-106

Tryptophan (Trp)

12-103

21-114

21-108

Alloisoleucine (Allolle)

<5

<5

<5

 

All results reported in nmol/mL

Interpretation
Provides information to assist in interpretation of the test results

When no significant abnormalities are detected, a simple descriptive interpretation is provided. When abnormal results are detected, a detailed interpretation is given, including an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, 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 a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Reference values are for fasting patients.

 

Patients with phenylketonuria (PKU) who are treated with pegvaliase-pqpz (Palynziq) may have false low phenylalanine concentrations due to persistent activity in collected blood specimens.

 

This assay does not measure total homocysteine. If relevant disorders are considered, also order CMMPP / Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma or HCYSP / Homocysteine, Total, Plasma analysis.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Part 8: Amino Acids. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, 2019. Accessed October 24, 2024 Available at https://ommbid.mhmedical.com/book.aspx?bookID=2709#225069340

2. Pasquali M, Longo N: Amino acids. In: Blau N, Dionisi Vici C, Ferreira CR, Vianey-Saban C, van Karnebeek CDM, eds. Physician's Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases. 2nd ed. Springer-Verlag; 2022:41-50

Method Description
Describes how the test is performed and provides a method-specific reference

Quantitative analysis of amino acids 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)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 5 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

2 weeks

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

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Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82139

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
AAQP Amino Acids, QN, P 35083-5
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
3512 Taurine 20657-3
3517 Asparagine 20638-3
3516 Serine 20656-5
3522 Glycine 20644-1
3518 Glutamine 20643-3
3535 Histidine 20645-8
3515 Threonine 20658-1
3521 Citrulline 20640-9
3532 Beta-Alanine 26604-9
3523 Alanine 20636-7
3520 Glutamic Acid 20642-5
32341 Argininosuccinic Acid 32227-1
3536 Arginine 20637-5
3524 Alpha-amino-n-butyric Acid 20634-2
3519 Proline 20655-7
3533 Ornithine 20652-4
3526 Cystine 22672-0
3534 Lysine 20650-8
3527 Methionine 20651-6
3525 Valine 20661-5
3530 Tyrosine 20660-7
3528 Isoleucine 20648-2
3529 Leucine 20649-0
3531 Phenylalanine 14875-9
3570 Interpretation (AAQP) 49247-0
32347 Allo-isoleucine 22670-4
34450 Alpha-aminoadipic Acid 26600-7
34451 Cystathionine 26607-2
34452 Beta-aminoisobutyric Acid 26605-6
34453 1-Methylhistidine 20633-4
34454 3-Methylhistidine 20635-9
34456 Homocitrulline 55876-7
34458 Hydroxyproline 20647-4
34459 Aspartic Acid 20639-1
34460 Ethanolamine 26608-0
34461 Sarcosine 26613-0
34463 Gamma-amino-n-butyric Acid 26609-8
34464 Hydroxylysine 26610-6
34465 Tryptophan 20659-9

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports

Test Update Resources

Change Type Effective Date
Test Changes - Reference Value 2024-06-17