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BRIC3 Gene Mutation Detection (Blood)

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

This test checks for specific changes (mutations) in the BRIC3 gene, which may be linked to certain genetic conditions affecting muscle or nervous system function. It uses a blood sample for analysis.

Quick summary

["This test helps identify inherited genetic variations that could influence your health."]

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

Key facts at a glance

LOINC
99127-3
Short code
BIRC3MUT
Synonyms
BIRC3 gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
EDTA (lavender/purple-top) tube for whole blood; sterile container for tissue specimens
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
0–120 years
Method
molgen
CPT
81175
SNOMED
398158000
Specimen volume
3-5 mL whole blood in EDTA tube; minimum 1 mL; tissue: 5-10 mg in sterile container
Stability
Whole blood: stable at room temperature (18-25°C) for 24 hours, refrigerated (2-8°C) for up to 7 days; do not freeze whole blood. DNA extracted: stable at 2-8°C for 1 week, -20°C for long-term storage. Tissue: stable in appropriate transport medium at 2-8°C for 24-48 hours or frozen at -80°C for extended storage.
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
72–336 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of genetic disorders linked to BRIC3 mutations, symptoms like muscle weakness, nerve issues, or developmental delays, or if you’re part of a genetic testing panel for inherited conditions.

How the Test Works

Blood is drawn and analyzed to detect mutations in the BRIC3 gene using advanced genetic sequencing methods. The lab compares your DNA sequence to known reference patterns to identify any differences.

Sample Collection and Preparation

A small amount of blood is collected from a vein in your arm. This sample is sent to a lab where it’s processed to isolate DNA for genetic analysis. You may be asked to fast or avoid certain activities before your test, depending on your provider’s instructions.

What to Expect After Testing

Results are typically reported within 1–2 weeks. If mutations are found, your provider will discuss potential implications, including risks for you or future family members, and next steps for management or monitoring.

Reference range

Negative for BIRC3 gene mutations. Results reported as mutation detected, not detected, or variant of uncertain significance (VUS) with specific nomenclature.N/A

Specimen: whole-blood

No special patient preparation required. Patient should be informed about the genetic nature of the test and appropriate genetic counseling may be recommended. Informed consent may be required per institutional policy.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

BRIC3 mutations can be associated with rare genetic disorders affecting muscle or nerve function, such as congenital myasthenic syndromes or other neuromuscular conditions. Identifying these mutations helps guide treatment options, genetic counseling, or preventive measures tailored to your health needs.

Short name

BRIC3 Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a known BRIC3 mutation in your DNA. This may suggest an increased risk for certain genetic conditions, but symptoms can vary widely—some people may not experience any issues. Your healthcare provider will explain how this finding fits into your overall health picture.
How long does it take to get results?
Test results are usually available within 1–2 weeks after your sample is received by the lab. Some providers may offer interim results or follow-up testing if needed, so always confirm with your healthcare team.
Can I fast before this test?
No fasting is required for this genetic test. Blood is drawn at a convenient time, and your provider will give specific instructions if your test involves other preparations (e.g., dietary restrictions for other related tests).
  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