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Test Code Epic LAB5111 Amino Acids, Quantitative, Spinal Fluid

Additional Codes

SQ code AACSFM

Mayo code AACSF

 

 

Reporting Name

Amino Acids, QN, CSF

Specimen Type

CSF

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful 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

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.


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 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

Test Classification

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

82139

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AACSF Amino Acids, QN, CSF 35507-3

 

Result ID Test Result Name Result LOINC Value
50435 Interpretation 49303-1
81934 Taurine 26614-8
30109 Asparagine 26603-1
30108 Serine 22644-9
34566 Hydroxyproline 26596-7
30115 Glycine 22650-6
30111 Glutamine 22641-5
34567 Aspartic Acid 22655-5
34568 Ethanolamine 26593-4
30128 Histidine 9453-2
30107 Threonine 22643-1
30117 Citrulline 22654-8
34569 Sarcosine 26598-3
34570 Beta-alanine 26589-2
30116 Alanine 22657-1
30110 Glutamic Acid 22652-2
34571 1-Methylhistidine 26584-3
34572 3-Methylhistidine 26585-0
34573 Argininosuccinic Acid 40838-5
34576 Homocitrulline 55875-9
30129 Arginine 22656-3
34577 Alpha-aminoadipic Acid 26587-6
34578 Gamma-amino-n-butyric Acid 26594-2
34579 Beta-aminoisobutyric Acid 26590-0
30118 Alpha-amino-n-butyric Acid 26586-8
34580 Hydroxylysine 26595-9
30112 Proline 22645-6
30126 Ornithine 22647-2
34581 Cystathionine 26592-6
30120 Cystine 22653-0
30127 Lysine 22651-4
30121 Methionine 22648-0
30119 Valine 22649-8
30124 Tyrosine 22642-3
30122 Isoleucine 22659-7
30123 Leucine 9412-8
30125 Phenylalanine 22646-4
34582 Tryptophan 26602-3
34583 Allo-isoleucine 22658-9

Reject Due To

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

Method Name

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

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

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)

Report Available

3 to 5 days

Secondary ID

81934