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HelpTest Code HCYSS Homocysteine, Total, Serum
Useful For
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including:
-Cystathionine beta-synthase deficiency (homocystinuria)
-Methylenetetrahydrofolate reductase deficiency and its thermolabile variants:
-Methionine synthase deficiency
-Cobalamin (Cbl) metabolism
-Combined methyl-Cbl and adenosyl-Cbl deficiencies: Cbl C2, Cbl D2, and Cbl F3 deficiencies
-Methyl-Cbl specific deficiencies: Cbl D-Var1, Cbl E, and Cbl G deficiencies
-Transcobalamin II deficiency
-Adenosylhomocysteinase deficiency
-Glycine N-methyltransferase deficiency
-Methionine adenosyltransferase I/III deficiency
Screening and monitoring patients suspected of, or confirmed with, an inherited disorder of methionine metabolism
Evaluating individuals with suspected deficiency of vitamin B12 or folate
Reporting Name
Homocysteine, Total, SSpecimen Type
SerumNecessary Information
Patient's age and sex are required.
Specimen Required
Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Specimen Volume: 1 mL
Collection Instructions: Centrifuge and aliquot serum into plastic vial within 4 hours of collection.
Specimen Minimum Volume
0.3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Refrigerated (preferred) | 28 days | |
| Frozen | 309 days | ||
| Ambient | 28 days |
Reference Values
|
Age |
Total Homocysteine (nmol/mL) |
|
|
Female |
Male |
|
|
0-11 months |
3.1-8.3 |
3.2-9.7 |
|
12-23 months |
3.2-8.3 |
3.3-9.6 |
|
24-35 months |
3.2-8.2 |
3.3-9.6 |
|
3 years |
3.2-8.2 |
3.3-9.6 |
|
4 years |
3.3-8.2 |
3.4-9.5 |
|
5 years |
3.4-8.1 |
3.5-9.4 |
|
6 years |
3.5-8.1 |
3.6-9.4 |
|
7 years |
3.5-8.1 |
3.7-9.4 |
|
8 years |
3.6-8.2 |
3.8-9.3 |
|
9 years |
3.7-8.2 |
3.9-9.4 |
|
10 years |
3.8-8.3 |
4.1-9.4 |
|
11 years |
3.9-8.4 |
4.3-9.4 |
|
12 years |
3.9-8.6 |
4.4-9.5 |
|
13 years |
4.0-8.7 |
4.6-9.6 |
|
14 years |
4.1-8.8 |
4.8-9.7 |
|
15 years |
4.2-8.9 |
5.0-9.8 |
|
16 years |
4.2-9.1 |
5.2-9.9 |
|
17 years |
4.3-9.2 |
5.4-10.0 |
|
18 years |
4.3-9.3 |
5.6-10.1 |
|
19 years |
4.4-9.5 |
5.7-10.3 |
|
20 years |
4.4-9.6 |
5.9-10.5 |
|
21 years |
4.4-9.8 |
6.0-10.6 |
|
22 years |
4.4-9.9 |
6.1-10.8 |
|
23 years |
4.4-10.1 |
6.2-11.0 |
|
24 years |
4.4-10.3 |
6.2-11.1 |
|
25 years |
4.4-10.4 |
6.3-11.3 |
|
26 years |
4.4-10.6 |
6.3-11.4 |
|
27 years |
4.3-10.8 |
6.4-11.6 |
|
28 years |
4.3-11.0 |
6.4-11.7 |
|
29 years |
4.3-11.2 |
6.4-11.8 |
|
30 years |
4.3-11.4 |
6.4-11.9 |
|
31 years |
4.4-11.6 |
6.4-12.1 |
|
32 years |
4.4-11.8 |
6.4-12.2 |
|
33 years |
4.4-11.9 |
6.4-12.3 |
|
34 years |
4.5-12.1 |
6.4-12.4 |
|
35 years |
4.5-12.2 |
6.4-12.6 |
|
36 years |
4.6-12.4 |
6.4-12.8 |
|
37 years |
4.6-12.5 |
6.4-12.9 |
|
38 years |
4.7-12.7 |
6.4-13.1 |
|
39 years |
4.7-12.8 |
6.4-13.2 |
|
40 years |
4.8-13.0 |
6.5-13.4 |
|
41 years |
4.8-13.2 |
6.5-13.5 |
|
42 years |
4.8-13.4 |
6.5-13.7 |
|
43 years |
4.9-13.5 |
6.6-13.9 |
|
44 years |
4.9-13.7 |
6.6-14.0 |
|
45 years |
4.9-13.9 |
6.6-14.2 |
|
46 years |
4.9-14.0 |
6.7-14.4 |
|
47 years |
4.9-14.2 |
6.7-14.5 |
|
48 years |
5.0-14.3 |
6.8-14.7 |
|
49 years |
5.0-14.4 |
6.8-14.9 |
|
50 years |
5.0-14.5 |
6.8-15.0 |
|
51 years |
5.1-14.6 |
6.8-15.2 |
|
52 years |
5.1-14.7 |
6.9-15.4 |
|
53 years |
5.1-14.8 |
6.9-15.5 |
|
54 years |
5.2-14.9 |
6.9-15.6 |
|
55 years |
5.2-15.0 |
6.9-15.7 |
|
56 years |
5.3-15.0 |
6.9-15.8 |
|
57 years |
5.3-15.1 |
6.9-15.9 |
|
58 years |
5.3-15.2 |
6.9-16.0 |
|
59 years |
5.4-15.2 |
6.9-16.0 |
|
60 years |
5.4-15.3 |
6.9-16.1 |
|
61 years |
5.4-15.4 |
7.0-16.2 |
|
62 years |
5.5-15.4 |
7.0-16.2 |
|
63 years |
5.5-15.5 |
7.0-16.3 |
|
64 years |
5.6-15.5 |
7.1-16.3 |
|
65 years |
5.6-15.6 |
7.1-16.3 |
|
66 years |
5.7-15.6 |
7.1-16.3 |
|
67 years |
5.7-15.7 |
7.2-16.3 |
|
68 years |
5.8-15.7 |
7.2-16.3 |
|
69 years |
5.9-15.7 |
7.2-16.3 |
|
70 years |
6.0-15.8 |
7.3-16.3 |
|
71 years |
6.1-15.8 |
7.3-16.3 |
|
72 years |
6.2-15.8 |
7.3-16.3 |
|
73 years |
6.3-15.9 |
7.3-16.3 |
|
74 years |
6.4-15.9 |
7.3-16.3 |
|
75 years |
6.5-15.9 |
7.3-16.3 |
|
76 years |
6.6-15.9 |
7.3-16.3 |
|
77 years |
6.7-16.0 |
7.4-16.3 |
|
78 years |
6.8-16.0 |
7.4-16.3 |
|
79 years |
6.9-16.0 |
7.5-16.3 |
|
80 years |
7.0-16.0 |
7.5-16.3 |
|
81 years |
7.1-16.0 |
7.7-16.2 |
|
82 years |
7.2-16.0 |
7.8-16.2 |
|
83 years |
7.2-16.0 |
7.9-16.2 |
|
84 years |
7.3-16.0 |
8.0-16.2 |
|
85 years |
7.3-16.0 |
8.2-16.2 |
|
>85 years |
7.4-16.0 |
8.3-16.2 |
Interpretation
Elevated homocysteine concentrations are considered informative in patients evaluated for suspected nutritional deficiencies (vitamin B12, folate) and inborn errors of metabolism. Measurement of methylmalonic acid (MMA) distinguishes between vitamin B12 (cobalamin) and folate deficiencies, as MMA is only elevated in vitamin B12 deficiency. Treatment response can be evaluated by monitoring serum homocysteine concentrations over time.
Clinical Reference
1. Mudd SH, Levy HL, Kraus JP: Disorders of transsulfuration. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, 2019. Accessed December 8, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225084718&bookid=2709
2. Chrysant SG, Chrysant GS: The current status of homocysteine as a risk factor for cardiovascular disease: a mini review. Expert Rev Cardiovasc Ther. 2018 Aug;16(8):559–565. doi: 10.1080/14779072.2018.1497974
3. Refsum H, Smith AD, Ueland PM, et al: Facts and recommendations about total homocysteine determinations: an expert opinion. Clin Chem. 2004 Jan;50(1):3-32
4. Turgeon CT, Magera MJ, Cuthbert CD, et al: Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem. 2010 Nov;56(11):1686-1695
5. Sacharow SJ, Picker JD, Levy HL: Homocystinuria caused by cystathionine beta-synthase deficiency. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet] University of Washington, Seattle. 2004. Updated May 18, 2017. Accessed December 8, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1524/
Day(s) Performed
Monday through FridayReport Available
3 to 5 daysPerforming 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
83090
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| HCYSS | Homocysteine, Total, S | 13965-9 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 35836 | Homocysteine, Total, S | 13965-9 |
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
-Biochemical Genetics Test Request (T798)
-Cardiovascular Test Request (T724)