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Genetic mutation analysis for the OCR1 gene (whole blood)

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

This test checks for specific changes (mutations) in the OCR1 gene, which may be linked to certain genetic conditions. It uses a sample of your blood to identify these mutations.

Quick summary

["This test helps diagnose or monitor conditions related to OCR1 gene mutations."]

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

Key facts at a glance

LOINC
53883-5
Short code
OCRL1 gene Mut Anl Bld/T
Synonyms
OCRL1 gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
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 have symptoms or a family history suggestive of a genetic disorder linked to OCR1 mutations, or if you are at risk due to inherited traits. It may also be used in genetic counseling or before certain treatments.

How the Test Works

Blood is collected and analyzed to detect mutations in the OCR1 gene. Advanced laboratory techniques, such as next-generation sequencing, identify these changes in your DNA.

What to Expect Before the Test

No special preparation is needed for this test. You may have a small needle inserted into your arm to draw blood, similar to a routine blood draw. You can eat and drink normally before the test.

What to Expect During the Test

The blood sample is processed and sent to a specialized lab for genetic analysis. Results are typically available within a few days to weeks, depending on lab procedures and confirmation steps.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Mutations in the OCR1 gene may be associated with rare genetic disorders affecting metabolism or other bodily functions. Identifying these mutations can help guide treatment plans, manage symptoms, and inform family planning decisions. Early detection may also help prevent complications in affected individuals.

Short name

OCR1 Gene Mutation Test

Frequently asked questions

How long does it take to get the results of this test?
Results are usually available within 1 to 4 weeks, depending on the complexity of the analysis and confirmation steps. Your healthcare provider will contact you once results are ready.
What does a positive result mean?
A positive result indicates the presence of a mutation in the OCR1 gene. This may mean you have a higher risk of developing a related genetic condition. Your healthcare provider will discuss the implications with you and may recommend further testing or monitoring.
Can this test be used for prenatal screening?
This test is primarily performed on whole blood samples from adults or children. For prenatal screening, different genetic tests (such as amniocentesis or chorionic villus sampling) are typically used to assess gene mutations in fetal DNA.
  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