LZTR1 Gene Noonan Syndrome Type 10 NGS Genetic DNA Test
Comprehensive Genetic Testing for Noonan Syndrome Type 10
The LZTR1 Gene Noonan Syndrome Type 10 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for rare inherited conditions. This specialized test utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the LZTR1 gene, which is responsible for Noonan Syndrome Type 10 – a specific subtype of the broader Noonan syndrome spectrum. Early and accurate diagnosis through this test enables healthcare providers to implement targeted management strategies and provide families with crucial genetic counseling information.
What Does the LZTR1 Gene Test Measure?
This comprehensive genetic analysis specifically targets the LZTR1 gene located on chromosome 22q11.21. The test detects:
- Pathogenic variants and mutations in the LZTR1 gene
- Single nucleotide polymorphisms (SNPs) associated with Noonan Syndrome Type 10
- Copy number variations affecting gene function
- Novel genetic alterations that may contribute to disease manifestation
The LZTR1 gene encodes a protein involved in the RAS/MAPK signaling pathway, and mutations disrupt normal cellular processes, leading to the characteristic features of Noonan syndrome.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Distinctive facial features including hypertelorism, down-slanting palpebral fissures, and low-set ears
- Congenital heart defects such as pulmonary valve stenosis or hypertrophic cardiomyopathy
- Developmental delays and learning disabilities
- Short stature and growth abnormalities
- Family history of Noonan syndrome or related conditions
- Unexplained dysmorphic features in pediatric patients
- Suspected RASopathy based on clinical presentation
Key Benefits of LZTR1 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of Noonan Syndrome Type 10
- Personalized Treatment: Enables targeted management of cardiac and developmental issues
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of supportive therapies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained during your post-test counseling session. Generally, results fall into three categories:
- Positive Result: Indicates the presence of a pathogenic LZTR1 mutation confirming Noonan Syndrome Type 10 diagnosis
- Negative Result: Suggests no detectable LZTR1 mutation, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies a genetic change with unknown clinical impact requiring further evaluation
Our genetic counselors will help you understand the implications of your results and guide you through next steps for medical management and family planning.
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| LZTR1 Gene Noonan Syndrome Type 10 NGS Genetic DNA Test | $700 USD | $500 USD |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Pediatric Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to Noonan syndrome symptoms
- Participation in genetic counseling session
- Development of detailed pedigree chart documenting family members affected by LZTR1-related conditions
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The LZTR1 Gene Noonan Syndrome Type 10 NGS Genetic DNA Test provides the answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand what your results mean for your health and your family.
