2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine

Necessary Information

1. Age and sex of patient are required.

2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.

Specimen Required

Supplies: Urine Tube, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 10 mL

Pediatric: If the collection volume appears insufficient, submit as much specimen as possible in a single container; the laboratory will determine if volume is sufficient for test.

Collection Instructions:

1. Collect a random urine specimen (first morning void preferred)

2. No preservative

Useful For

Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Reporting Name

D-,L- 2-Hydroxyglutaric Acid, QN, U

Specimen Type

Urine

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type	Temperature	Time
Urine	Frozen (preferred)	416 days
	Ambient	14 days
	Refrigerated	14 days

Reference Values

Age	D-2-hydroxyglutaric acid (mmol/mol creatinine)	L-2-hydroxyglutaric acid (mmol/mol creatinine)
0-11 months	≤14.11	≤17.38
12-23 months	≤13.76	≤17.03
24-35 months	≤13.38	≤16.63
3 years	≤12.96	≤16.18
4 years	≤12.20	≤15.35
5 years	≤11.40	≤14.44
6 years	≤10.56	≤13.46
7 years	≤9.71	≤12.43
8 years	≤8.93	≤11.44
9 years	≤8.21	≤10.50
10 years	≤7.56	≤9.66
11 years	≤6.99	≤8.94
12 years	≤6.47	≤8.33
13 years	≤6.01	≤7.83
14 years	≤5.60	≤7.44
15 years	≤5.23	≤7.14
16 years	≤4.91	≤6.93
17 years	≤4.63	≤6.78
18 years	≤4.40	≤6.69
19 years	≤4.21	≤6.63
20 years	≤4.07	≤6.60
21 years	≤3.96	≤6.59
22 years	≤3.88	≤6.58
23 years	≤3.81	≤6.56
24 years	≤3.76	≤6.54
25 years	≤3.71	≤6.50
26 years	≤3.67	≤6.44
27 years	≤3.63	≤6.37
28 years	≤3.59	≤6.27
29 years	≤3.56	≤6.15
30 years	≤3.54	≤6.02
31 years	≤3.52	≤5.87
32 years	≤3.50	≤5.72
33 years	≤3.49	≤5.57
34 years	≤3.48	≤5.41
35 years	≤3.46	≤5.26
36 years	≤3.45	≤5.13
37 years	≤3.43	≤5.00
38 years	≤3.42	≤4.88
39 years	≤3.40	≤4.78
40 years	≤3.39	≤4.70
41 years	≤3.37	≤4.62
42 years	≤3.35	≤4.55
43 years	≤3.33	≤4.50
44 years	≤3.30	≤4.44
45 years	≤3.28	≤4.40
46 years	≤3.24	≤4.35
47 years	≤3.21	≤4.31
48 years	≤3.17	≤4.27
49 years	≤3.13	≤4.23
50 years	≤3.10	≤4.19
51 years	≤3.07	≤4.16
52 years	≤3.04	≤4.12
53 years	≤3.01	≤4.10
54 years	≤2.99	≤4.07
55 years	≤2.97	≤4.04
56 years	≤2.95	≤4.01
57 years	≤2.93	≤3.98
58 years	≤2.91	≤3.94
59 years	≤2.89	≤3.91
60 years	≤2.87	≤3.87
61 years	≤2.85	≤3.84
62 years	≤2.83	≤3.80
63 years	≤2.79	≤3.78
64 years	≤2.76	≤3.75
65 years	≤2.71	≤3.73
66 years	≤2.67	≤3.72
67 years	≤2.61	≤3.71
68 years	≤2.56	≤3.69
69 years	≤2.50	≤3.68
70 years	≤2.44	≤3.66
71 years	≤2.38	≤3.64
72 years	≤2.32	≤3.61
73 years	≤2.26	≤3.56
74 years	≤2.21	≤3.50
75 years	≤2.16	≤3.43
76 years	≤2.10	≤3.35
77 years	≤2.05	≤3.26
78 years	≤2.00	≤3.17
79 years	≤1.94	≤3.08
80 years	≤1.89	≤2.99
81 years	≤1.84	≤2.91
82 years	≤1.80	≤2.84
83 years	≤1.75	≤2.78
84 years	≤1.71	≤2.73
85 years	≤1.68	≤2.69
86 years	≤1.65	≤2.67
87 years	≤1.64	≤2.65
88 years	≤1.63	≤2.64
≥89 years	≤1.62	≤2.64

Interpretation

The values for the D-2-hydroxyglutaric acid and L-2-hydroxyglutaric acid concentrations are reported. The interpretation of the result must be correlated with clinical and other laboratory findings.

Clinical Reference

1. Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012;35(4):571-587. doi:10.1007/s10545-012-9462-5

2. Muhlhausen C, Salomons GS, Lukacs Z, et al. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis. 2014;37(5):775-781. doi:10.1007/s10545-014-9702-y

3. Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006;29(1):21-29. doi:10.1007/s10545-006-0317-9

4. Perales-Clemente E, Hewitt AL, Studinski AL, et al. Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria. JIMD Rep. 2020;58(1):21-28. doi:10.1002/jmd2.12188

Day(s) Performed

Thursday

Report Available

3 to 9 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

83921 x 2

LOINC Code Information

Test ID	Test Order Name	Order LOINC Value
2HGA	D-,L- 2-Hydroxyglutaric Acid, QN, U	79297-8

Result ID	Test Result Name	Result LOINC Value
614619	Interpretation	79303-4
614620	D-2-Hydroxyglutaric acid	80100-1
614621	L-2-Hydroxyglutaric acid	80099-5
614622	Reviewed By	18771-6

Forms

1. Biochemical Genetics Patient Information (T602)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Special Instructions

Biochemical Genetics Patient Information

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Test Code 2HGA 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine