PTPN11 Gene Leukemia Juvenile Myelomonocytic NGS Genetic DNA Test
Understanding PTPN11 Gene Testing for Juvenile Myelomonocytic Leukemia
The PTPN11 Gene Leukemia Juvenile Myelomonocytic NGS Genetic DNA Test represents a breakthrough in pediatric oncology diagnostics. This advanced genetic screening specifically targets mutations in the PTPN11 gene, which plays a critical role in the development of juvenile myelomonocytic leukemia (JMML) – a rare and aggressive form of childhood leukemia affecting children typically under four years of age.
What Does This Test Measure?
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to detect specific mutations in the PTPN11 gene, including:
- Point mutations affecting protein tyrosine phosphatase function
- Missense mutations disrupting normal cellular signaling
- Genetic alterations in the RAS/MAPK signaling pathway
- Specific oncogenic variants associated with JMML development
The test provides detailed information about genetic abnormalities that can lead to uncontrolled myeloid cell proliferation, a hallmark characteristic of juvenile myelomonocytic leukemia.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for children and individuals displaying symptoms or risk factors associated with juvenile myelomonocytic leukemia, including:
- Unexplained fever, fatigue, and persistent infections
- Enlarged spleen (splenomegaly) or liver (hepatomegaly)
- Pale skin, bruising, or bleeding tendencies
- Abnormal blood counts showing monocytosis and immature myeloid cells
- Family history of hematological cancers or genetic disorders
- Children diagnosed with Noonan syndrome or related RASopathies
- Individuals with suspected myeloproliferative disorders
Benefits of PTPN11 Genetic Testing
Early Detection and Personalized Care
Undergoing the PTPN11 Gene Leukemia Juvenile Myelomonocytic NGS Genetic DNA Test offers numerous advantages:
- Early Diagnosis: Enables prompt identification of JMML before advanced disease progression
- Treatment Guidance: Provides crucial information for developing targeted treatment strategies
- Family Planning: Offers genetic counseling opportunities for families with hereditary cancer risks
- Prognostic Information: Helps predict disease course and potential treatment responses
- Research Contribution: Advances scientific understanding of pediatric leukemia genetics
Understanding Your Test Results
Interpreting Genetic Findings
Your test results will be carefully analyzed and presented with comprehensive interpretation:
- Positive Result: Indicates the presence of PTPN11 mutations associated with JMML risk
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic factors
- Variant of Unknown Significance: Identifies genetic changes requiring further clinical correlation
- Detailed Report: Includes mutation specifics, clinical relevance, and recommended follow-up actions
All results are reviewed by board-certified genetic specialists and oncologists to ensure accurate interpretation and appropriate clinical recommendations.
Test Information and Pricing
| Test Component | Price (USD) |
|---|---|
| PTPN11 Gene Leukemia Juvenile Myelomonocytic NGS Genetic DNA Test | |
| • Discount Price | $500 |
| • Regular Price | $700 |
Additional Test Details
- Turnaround Time: 3 to 4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Specialty: Oncology Genetics
- Method: Next-Generation Sequencing (NGS) Technology
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure accurate and reliable results for patients nationwide.
Take Action for Your Health
Early genetic testing can make a significant difference in managing juvenile myelomonocytic leukemia. Our experienced genetic counselors and oncology specialists are available to discuss your testing options and provide personalized guidance.
Book your PTPN11 Gene Leukemia Juvenile Myelomonocytic NGS Genetic DNA Test today by calling our dedicated healthcare team at +1(267) 388-9828 or schedule your appointment online.
Don’t wait to get the answers you need for proactive healthcare management. Our compassionate team is here to support you through every step of the genetic testing process.
