Test Code HCMM Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot
Reporting Name
HCMM, BSPerforming Laboratory
Mayo Clinic Laboratories in RochesterUseful For
Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Ordering Guidance
The preferred test for evaluating adults for an inherited disorder of methionine, cobalamin, or propionate metabolism is CMMPP / Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma or CMMPS / Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum.
Specimen Required
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Card-Blood Spot Collection (Filter Paper)
Acceptable: Local newborn screening card, Whatman Protein Saver 903 filter paper, PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell filter paper
Specimen Volume: 2 Blood spots
Collection Instructions:
1. Do not use device or capillary tube containing EDTA or ACD to collect specimen. Sodium heparin is acceptable but must be spotted on card the same day as collected.
2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle) using blood from a heel or finger stick.
3. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Type
Whole bloodSpecimen Minimum Volume
1 Blood spot
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Ambient (preferred) | FILTER PAPER | |
Frozen | FILTER PAPER | ||
Refrigerated | FILTER PAPER |
Reject Due To
Shows serum rings; Insufficient specimen | Reject |
Reference Values
HOMOCYSTEINE:
<9.0 nmol/mL
METHYLMALONIC ACID:
<4.0 nmol/mL
METHYLCITRIC ACID:
<1.0 nmol/mL
An interpretive report will also be provided.
Interpretation
Elevated homocysteine, methylcitric acid, or methylmalonic acid concentrations are indicative of an underlying metabolic disorder.
Day(s) Performed
Monday, Thursday
Report Available
3 to 6 daysTest 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
83918
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
HCMM | HCMM, BS | 100765-7 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
50252 | Homocysteine | 54301-7 |
50253 | Methylmalonic Acid | 82385-6 |
50254 | Methylcitric Acid | 82386-4 |
50255 | Interpretation | 59462-2 |
50257 | 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.