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Genetic Sequence Analysis of GATA2 Gene (Full Mutation)

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

This test examines the full sequence of the GATA2 gene, which plays a key role in blood cell development. It helps identify any mutations that may be linked to genetic disorders affecting blood, immune, or kidney function.

Quick summary

["This test can help diagnose conditions caused by rare genetic changes in the GATA2 gene."]

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

Key facts at a glance

LOINC
95771-2
Short code
GATA2 gene Full Mut Anl Bld/T Seq
Synonyms
GATA2 gene Full Mut Anl Bld/T Seq
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
sequencing
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 a genetic disorder, such as unexplained infections, kidney problems, or abnormalities in your blood cells. It may also be used in research or for genetic counseling when family history suggests a risk of GATA2-related conditions.

What to Expect Before the Test

No special preparation is needed. If blood is drawn, you may feel slight discomfort, but it’s a quick procedure. If saliva or another specimen is used, simply collect it as directed. Always follow your provider’s instructions for sample collection.

What the Test Results Mean

Results will show whether the GATA2 gene has any mutations. A normal sequence means no mutations were found. If mutations are detected, they may indicate an increased risk of specific genetic disorders. Your healthcare provider will discuss these findings with you.

Common Conditions Linked to GATA2 Mutations

Mutations in the GATA2 gene can contribute to conditions like Noonan syndrome variants, dyskeratosis congenita, or other rare genetic disorders affecting blood, immune, or kidney function. These conditions may cause symptoms like anemia, infections, or organ abnormalities.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

GATA2 Gene Mutation Sequencing

Frequently asked questions

What does a positive result mean?
A positive result means the test found mutations in the GATA2 gene that may increase your risk of genetic disorders. These mutations can affect blood cell production, immune function, or kidney health. Your healthcare provider will work with you to understand the implications and next steps, such as further testing or monitoring.
Will this test affect my insurance coverage?
Whether this test is covered by insurance depends on your specific situation, insurance plan, and reason for testing. Some genetic tests are covered if they’re part of a diagnostic evaluation for a suspected genetic disorder. Always confirm with your insurance provider or healthcare team before the test.
How long will it take to get my results?
Test results typically take 2 to 4 weeks or longer, depending on the lab and complexity of the analysis. Your healthcare provider will contact you once results are ready. In the meantime, avoid making major decisions based on preliminary or pending results.
  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