PTPN11 Gene Mutation Analysis by Targeted Next-Generation Sequencing (Whole Blood)
This test checks for genetic changes in the PTPN11 gene, which may be linked to certain blood disorders or immune system conditions.
["Identifying PTPN11 mutations can help determine if you may have a genetic predisposition to conditions like Noonan syndrome or other related disorders."]
Key facts at a glance
- LOINC
- 53791-0
- Short code
- PTPN11 gene Mut Anl tier1 Bld/T
- Synonyms
- PTPN11 gene Mut Anl tier1 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 Is Done
Your healthcare provider may recommend this test if you have symptoms or a family history suggestive of genetic conditions affecting blood cells or immune function. It can also be part of genetic counseling or risk assessment for certain inherited disorders.
What to Expect Before the Test
You’ll provide a blood sample, typically drawn from a vein in your arm. The process is quick and usually requires no special preparation. You may experience a slight pinch, but it’s generally well-tolerated.
What the Test Results Mean
Results indicate whether the PTPN11 gene has mutations that may contribute to your health concerns. Positive results suggest a genetic link, which can guide further medical evaluation or management plans.
Common Conditions Linked to PTPN11 Mutations
Mutations in this gene are often associated with Noonan syndrome, a group of disorders affecting growth and development, heart function, and other organ systems. They may also be linked to other rare blood disorders or immune-related conditions.
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.
This test is primarily used for diagnostic or genetic counseling purposes rather than routine screening. It helps healthcare providers tailor treatment or monitoring plans based on genetic findings, though symptoms alone cannot always confirm a diagnosis.
Short name
PTPN11 Mutation Test
Frequently asked questions
What does a positive PTPN11 mutation result mean for my health?
Can this test be done without a family history of genetic disorders?
How long does it take to get results from 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