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DICER1 Gene Mutation Analysis (Full Sequence)

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

This test checks for mutations in the DICER1 gene, which may be linked to inherited conditions like pleuropulmonary blastoma, ovarian tumors, or other rare syndromes.

Quick summary

["This test helps identify genetic changes that could affect your risk for certain cancers or developmental disorders."]

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

Key facts at a glance

LOINC
105585-4
Short code
DICER1 gene Full Mut Anl Tiss
Synonyms
DICER1 gene Full Mut Anl Tiss
Category
chemistry
Sample
serum
Container
Red-top tube (SST)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
5 mL
Stability
Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
Hemolysis max
500
Lipemia max
1000
Icterus max
500
TAT
4–24 hours
Order
routine

What This Test Measures

The DICER1 gene provides instructions for making an enzyme called dicer, which plays a key role in processing RNA into smaller pieces called microRNAs. Mutations in this gene can disrupt normal gene function, sometimes leading to abnormal growth of tissues or tumors.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of DICER1-related conditions, symptoms of a genetic disorder, or if you’re at increased risk due to certain genetic testing results.

Sample Collection and Preparation

This test typically uses a blood sample (whole blood) or saliva sample to analyze DNA. Your provider will guide you on how to prepare for sample collection.

What to Expect After Testing

Results may take several weeks to process. If mutations are found, your healthcare team will discuss next steps, which may include additional genetic counseling or monitoring.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Mutations in the DICER1 gene are associated with an increased risk of developing specific cancers (e.g., lung, ovarian, thyroid) and other rare syndromes. Early detection and monitoring can help manage risks and symptoms.

Short name

DICER1 Gene Test

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a DICER1 gene mutation. This may mean you have a higher risk for certain cancers or genetic conditions, and your healthcare provider will work with you to develop a personalized plan for monitoring or prevention.
Will this test affect my insurance or ability to get treatment?
Genetic testing results may influence insurance coverage or treatment options, depending on your healthcare provider’s recommendations and local laws. Always discuss this with your provider and insurance company.
Can I get this test if I don’t have symptoms?
Yes, this test may be recommended as part of genetic screening, especially if you have a family history of DICER1-related conditions or are at increased risk due to other genetic factors.
  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