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Full-length genetic mutation analysis for methylmalonic aciduria (MTR deficiency) with whole blood DNA sequencing

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

This test checks for mutations in the *MTR* gene, which can cause methylmalonic aciduria—a rare metabolic disorder affecting how your body breaks down certain foods.

Quick summary

["Helps diagnose genetic conditions that may require specialized dietary or medical management."]

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

Key facts at a glance

LOINC
77053-7
Short code
MTR Full Mut Anl Bld/T Seq
Synonyms
MTR Full Mut Anl Bld/T Seq
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
sequencing
CPT
86430
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you or a family member have symptoms like vomiting, weakness, or developmental delays, or if you have a family history of metabolic disorders. It’s also used in newborn screening programs or genetic counseling for inherited conditions.

How the Test Works

A small blood sample is taken to extract DNA. Specialized lab techniques (like sequencing) identify any changes (mutations) in the *MTR* gene that could disrupt normal metabolism.

What to Expect Before the Test

No special preparation is needed. A healthcare professional will draw blood from your arm, similar to a routine blood test. You may feel slight discomfort, but it’s brief.

What the Results Mean

Results will indicate whether mutations in the *MTR* gene are present. If mutations are found, they may suggest a metabolic disorder requiring further evaluation by a specialist.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Methylmalonic Aciduria Genetic Test (MTR Mutation Screening)

Frequently asked questions

What does this test measure?
This test does not measure methylmalonic acid levels directly. Instead, it checks for genetic mutations linked to the *MTR* gene, which may cause metabolic dysfunction.
How long will I wait for results?
Results typically take 2–4 weeks, depending on lab processing and follow-up steps. Your provider will contact you with findings once available.
Can I fast before this test?
No fasting is required for this genetic test. Blood is drawn at any time, and diet does not affect DNA sequencing results.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

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