PTPN11 Gene Noonan Syndrome Type 1 NGS Genetic DNA Test
Understanding PTPN11 Gene Noonan Syndrome Type 1
Noonan syndrome type 1 is a genetic disorder caused by mutations in the PTPN11 gene, which plays a crucial role in cell signaling pathways that regulate growth and development. This condition follows an autosomal dominant inheritance pattern, meaning only one copy of the mutated gene is sufficient to cause the disorder. The PTPN11 gene provides instructions for making a protein called SHP-2, which is involved in controlling various cellular processes including cell division, differentiation, and migration.
What This Test Detects
Our advanced NGS (Next-Generation Sequencing) genetic test specifically analyzes the PTPN11 gene to identify mutations associated with Noonan syndrome type 1. The test examines:
- Point mutations in the PTPN11 gene coding regions
- Small insertions and deletions affecting gene function
- Specific genetic variants known to cause Noonan syndrome
- Novel mutations that may contribute to the condition
Clinical Significance of PTPN11 Mutations
Mutations in the PTPN11 gene account for approximately 50% of all Noonan syndrome cases. These genetic changes typically result in gain-of-function alterations that lead to excessive signaling through the RAS-MAPK pathway, disrupting normal development processes and causing the characteristic features of Noonan syndrome.
Who Should Consider This Test?
This genetic test is recommended for individuals displaying symptoms suggestive of Noonan syndrome, including:
- Characteristic facial features (wide-set eyes, low-set ears, webbed neck)
- Congenital heart defects, particularly pulmonary valve stenosis
- Short stature and developmental delays
- Bleeding disorders or easy bruising
- Family history of Noonan syndrome or related conditions
- Unexplained developmental delays with dysmorphic features
- Children with suspected genetic syndromes affecting growth
Pediatric Considerations
Since Noonan syndrome primarily affects children, early genetic testing can provide crucial information for managing the condition. Pediatricians often recommend this test when children present with multiple features of the syndrome, enabling early intervention and specialized care.
Benefits of PTPN11 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of Noonan syndrome type 1
- Family Planning: Helps assess recurrence risks for future pregnancies
- Personalized Management: Guides appropriate medical surveillance and interventions
- Early Intervention: Enables timely treatment for heart conditions and developmental issues
- Genetic Counseling: Provides families with comprehensive understanding of inheritance patterns
- Research Contribution: Helps advance understanding of RASopathies and related conditions
Understanding Your Test Results
Our genetic counselors will help you interpret your results with the following possible outcomes:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the PTPN11 gene, confirming the diagnosis of Noonan syndrome type 1. This information allows for:
- Implementation of appropriate medical management strategies
- Regular cardiac monitoring and developmental assessments
- Family member testing to identify other affected individuals
- Access to specialized care and support resources
Negative Result
A negative result means no disease-causing mutations were found in the PTPN11 gene. However, this doesn’t completely rule out Noonan syndrome, as other genes can cause similar conditions. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
Sometimes, genetic changes of unknown clinical significance are identified. In such cases, our genetic specialists provide guidance on interpretation and may recommend additional family studies.
Test Information and Pricing
| Test Feature | Details |
|---|---|
| Test Name | PTPN11 Gene Noonan Syndrome Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Preparation of family pedigree chart showing affected relatives
- Understanding of potential outcomes and their implications
Nationwide Testing Availability
We have testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive support throughout the testing process.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of Noonan syndrome, or if you have a family history of this condition, our PTPN11 genetic test can provide the answers you need. Early diagnosis through genetic testing enables better management of symptoms and improved quality of life.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
