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IDH1 Mutation Detection in Blood (Qualitative)

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

This test checks for specific genetic changes (mutations) in the IDH1 gene found in your blood cells. These mutations are linked to certain blood cancers and other conditions.

Quick summary

["A simple blood test to identify genetic mutations that may indicate certain blood disorders or cancers."]

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

Key facts at a glance

LOINC
100022-3
Short code
IDH1 gene Mut Anl Bld/T
Synonyms
IDH1 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 Is Done

Doctors may order this test if you have symptoms of blood disorders, such as anemia, fatigue, or unexplained bruising. It’s also used in research or monitoring for certain cancers like acute myeloid leukemia (AML) or other hematologic malignancies.

What to Expect Before the Test

You’ll have a small needle inserted into your arm to draw blood. It usually takes a few minutes. No special preparation is needed, but inform your doctor about any medications or health conditions you have.

What the Test Results Mean

If the test finds a mutation in the IDH1 gene, it confirms the presence of a genetic change associated with certain blood-related diseases. Results help guide treatment decisions.

Possible Outcomes

A positive result means the mutation is detected. A negative result means no mutation was found in this sample. Follow-up testing or additional evaluation may be needed based on your symptoms and medical history.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

IDH1 Mutation Test

Frequently asked questions

IDH1 mutations are often found in blood cancers like AML and other hematologic disorders. Detecting these mutations helps doctors diagnose the condition, determine the best treatment, and monitor response to therapy.
This test is qualitative, so results are either positive (mutation detected) or negative (no mutation detected). It’s not used to measure how severe the mutation is but rather to confirm its presence.
Will this test affect my treatment options?
Yes, the presence of an IDH1 mutation can influence treatment choices. Some cancers treated with IDH1 inhibitors may be more effective if the mutation is confirmed. Always discuss results with your healthcare provider.
How often will I need this test?
Your doctor may recommend this test at diagnosis, during treatment monitoring, or as part of follow-up care depending on your condition. Frequency varies by medical situation.
  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