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TARDBP Gene Mutation Screening in Whole Blood

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

This test checks for genetic changes in the TARDBP gene, which may be linked to certain neurological conditions like amyotrophic lateral sclerosis (ALS). It uses a sample of your blood to identify if these mutations are present.

Quick summary

["This test helps assess genetic risk for rare neurological disorders by examining blood for specific gene mutations."]

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

Key facts at a glance

LOINC
77633-6
Short code
TARDBP gene Mut Anl Bld/T
Synonyms
TARDBP 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 of neurological issues, a family history of ALS or related disorders, or if genetic counseling suggests testing for TARDBP mutations is appropriate. It can also be part of a broader genetic evaluation.

What to Expect Before the Test

No special preparation is needed. You’ll provide a small blood sample, typically drawn from your arm. The process is quick and usually painless. If you’re nervous, let your healthcare provider know.

What the Test Results Mean

Results will indicate whether the TARDBP gene in your blood sample contains the suspected mutations. If mutations are found, they may explain your symptoms or family history. If no mutations are detected, it doesn’t rule out other genetic or environmental factors.

Common Questions About This Test

This test focuses on genetic mutations and isn’t used to diagnose conditions like infections or metabolic disorders. It’s specific to the TARDBP gene and won’t show other genetic variations.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

TARDBP Mutation Test

Frequently asked questions

What does it mean if I have a positive result?
A positive result means the TARDBP gene in your blood contains the identified mutations, which may increase your risk for neurological conditions like ALS. Your healthcare provider will discuss next steps, which may include genetic counseling or further testing.
What if I have a negative result?
A negative result means the specific mutations tested for were not found in your blood. However, other genetic factors or conditions may still be responsible for your symptoms. Your provider may recommend additional testing or monitoring.
How often should I get this test?
This test is typically done once, unless you have ongoing symptoms, a family history of ALS, or your healthcare provider recommends periodic monitoring. Follow-up testing is usually based on clinical needs and genetic counseling recommendations.
  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