PTPN11 Gene Mutation Analysis (Tissue)
This test checks for genetic changes in the PTPN11 gene, which may be linked to certain blood disorders or immune system conditions.
["Understanding your PTPN11 gene mutation can help guide treatment options for rare blood or immune-related conditions."]
Key facts at a glance
- LOINC
- 53792-8
- Short code
- PTPN11 gene Mut Anl tier3 Bld/T
- Synonyms
- PTPN11 gene Mut Anl tier3 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 conditions like Noonan syndrome, juvenile myelomonocytic leukemia (JMML), or other rare genetic disorders affecting blood cells or immune function.
What to Expect During the Test
A small blood sample will be taken from your arm. The sample will be sent to a lab for genetic analysis to detect mutations in the PTPN11 gene.
Preparation and Aftercare
No special preparation is needed. You may experience mild discomfort or bruising at the puncture site, which usually resolves quickly. Avoid vigorous activity for a few hours afterward.
What the Results Mean
Results may indicate a mutation in the PTPN11 gene, which could influence diagnosis and treatment planning for conditions like blood disorders or immune system issues. Consult your healthcare provider for interpretation.
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.
Clinical Significance: PTPN11 mutations are associated with inherited conditions that can affect blood cell production, immune function, or growth and development. Identifying these mutations helps tailor medical management and support.
Short name
PTPN11 Mutation Test
Frequently asked questions
What does a positive result mean for my health?
Will this test affect my insurance coverage?
How long will it take to get my results?
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