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Genetic test for FAM134M mutation in whole blood

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

This test checks for a specific genetic change (mutation) in the FAM134M gene that may be linked to certain health conditions. It uses a sample of your blood to analyze your DNA.

Quick summary

This test helps identify if you carry a mutation in the FAM134M gene, which may influence your risk for specific genetic disorders.

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

Key facts at a glance

LOINC
69483-6
Short code
F9 gene Fam Mut Anl Bld/T
Synonyms
F9 gene Fam 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 a family history of conditions associated with FAM134M mutations, such as rare genetic disorders like certain types of muscular dystrophy or developmental delays. It may also be used for prenatal testing or carrier screening in certain populations.

How the Test Works

The test involves collecting a small sample of your blood. The DNA from your blood cells is extracted and analyzed for the presence of the FAM134M mutation using advanced genetic testing methods.

Preparation for the Test

No special preparation is needed for this test. You may have some mild discomfort from a small needle prick, but it is generally quick and well-tolerated.

What to Expect After the Test

After the blood sample is taken, you can resume your normal activities immediately. You will receive results from your healthcare provider, who will explain the findings in detail.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Identifying the FAM134M mutation can help determine if you are at risk for genetic conditions that may affect your health or those of your future children. Early identification can guide family planning decisions, genetic counseling, and potentially targeted medical management.

Short name

FAM134M Mutation Genetic Test

Frequently asked questions

What does a positive result mean?
A positive result indicates that you have the FAM134M mutation. This may mean you are a carrier and could pass this mutation to your children. It does not necessarily mean you will develop a related health condition, but it will inform your healthcare provider about your genetic risk profile.
What does a negative result mean?
A negative result means the FAM134M mutation was not detected in your sample. However, some mutations may not be detected by this test, so further genetic testing might be recommended if there is a strong family history of related conditions.
How often should I get this test?
This test is typically performed once, usually as part of genetic screening or diagnostic evaluation. Follow-up testing or monitoring may be recommended by your healthcare provider based on your specific situation and family history.
  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