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Homocysteine, Methylmalonate, and 2-Methylcitrate Panel, Dried Blood Spot

Published: August 9, 2026Updated: August 16, 2026

This dried blood spot panel measures homocysteine, methylmalonate, and 2-methylcitrate, substances that may increase when vitamin B12 or related metabolic pathways are impaired. It is used to help evaluate possible methylmalonic acidemia, homocystinuria, and related inherited metabolic disorders.

Quick summary

["Abnormal results may indicate a vitamin B12-related or inherited metabolic disorder, but they must be interpreted and confirmed by your healthcare team."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
100765-7
Short code
Hcys+Me-Malonate+2Me-citrate Pnl DBS
Synonyms
Hcys+Me-Malonate+2Me-citrate Pnl DBS
Category
chemistry
Sample
serum
Container
Red-top tube (SST)
Units
N/A
Ref low
20
Ref high
400
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
CPT
82670
Specimen volume
5 mL
Stability
Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
Hemolysis max
500
Lipemia max
1000
Icterus max
500
TAT
4–24 hours
Order
routine

What the test measures

Homocysteine is an amino acid linked to several metabolic processes. Methylmalonate is a compound that can accumulate when methylmalonyl-CoA metabolism is disrupted, including with vitamin B12 deficiency. Elevated 2-methylcitrate can support evaluation for methylmalonic acidemia.

How the test is performed

A small blood sample is collected and placed on a filter card, known as a dried blood spot. The card is sent to a laboratory, where the three substances are measured using specialized laboratory methods.

Why the test may be ordered

This panel may be used in newborn screening or when an infant or child has unexplained developmental delay, feeding problems, poor growth, unusual blood counts, or symptoms suggesting a metabolic disorder. It may also be ordered when a family history or screening result raises concern for an inherited metabolic condition.

Understanding the results

Results can be affected by vitamin B12 deficiency, medications, diet, prematurity, and other clinical factors. An elevated result does not by itself establish a diagnosis; your clinician may recommend repeat testing and additional blood, urine, or genetic studies.

Reference range

Premenopausal: 20-400 pg/mL; Postmenopausal: <30 pg/mLN/A

Specimen: serum

No special preparation usually required. Stay well hydrated. Inform your healthcare provider of all medications and supplements you are taking.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical significance

Short name

Methylmalonic acidemia metabolic screening panel

Frequently asked questions

What conditions can this panel help evaluate?
The panel helps evaluate disorders involving methylmalonic acid metabolism and homocysteine metabolism, including methylmalonic acidemia, homocystinuria, and combined or related vitamin B12-processing disorders. Clinical findings and confirmatory testing are needed to distinguish among them.
Does an abnormal result mean my child has a metabolic disorder?
No. Abnormal values can occur for several reasons and may reflect nutritional deficiency, medication effects, prematurity, or technical and biological factors. A specialist should interpret the result in the context of symptoms, age, diet, medications, and other screening results.
What happens if the panel is abnormal?
The healthcare team may recommend repeating the test and obtaining confirmatory measurements, such as urine organic acids, plasma amino acids, and vitamin B12 studies. Genetic counseling and testing may also be considered if an inherited metabolic disorder is suspected.
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This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy