PTPN11 Gene Mutation Status by Next-Generation Sequencing (Whole Blood)
This test checks for mutations in the PTPN11 gene, which may be linked to certain blood disorders or genetic conditions. It involves analyzing a sample of your blood to identify specific changes in your DNA.
["This test helps assess genetic risk for conditions like Noonan syndrome or other genetic disorders."]
Key facts at a glance
- LOINC
- 41065-4
- Short code
- PTPN11 gene Mut Anl Bld/T
- Synonyms
- PTPN11 gene Mut Anl Bld/T
- Category
- coagulation
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 0.8
- Ref high
- 1.2
- Critical range
- — – 5 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 85610
- SNOMED
- 396252006
- 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 or a family history suggestive of genetic conditions affecting blood cells or growth. It could also be part of a broader genetic evaluation, especially if you have a known PTPN11-related disorder or are at risk due to family history.
How the Test Works
Blood is drawn from a vein in your arm. The sample is then analyzed using advanced genetic sequencing to detect mutations in the PTPN11 gene. This process identifies specific DNA changes that may influence how your body functions.
Sample Collection and Preparation
Whole blood is collected in a special tube during a standard blood draw. The blood sample is processed and sent to a laboratory for genetic analysis. No special preparation is needed before the test.
What to Expect Before the Test
You may experience mild discomfort during the blood draw, but it typically takes only a few minutes. Avoid eating or drinking for a short time before the test if instructed, though this is not always required for genetic tests.
Reference range
INR: 0.8-1.2 (warfarin: 2.0-3.0)N/A
Inform your healthcare provider if you are taking blood thinners. No special preparation required.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Mutations in the PTPN11 gene are associated with conditions such as Noonan syndrome, juvenile myelomonocytic leukemia (JMML), and other hematologic and developmental disorders. Identifying these mutations can guide treatment decisions, monitor disease progression, or inform genetic counseling for family members.
Short name
PTPN11 Mutation Test
Frequently asked questions
What does a positive result mean?
What does a negative result mean?
How often should I get this test?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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