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Order Code LABAACSF Amino Acids, Quantitative, Spinal Fluid

Additional Codes

Mayo Test Code: AACSF
EPIC Order Code: LABAACSF

Reporting Name

Amino Acids, QN, CSF

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

CSF


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

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