Noonan Rasopathies Panel NGS Genetic DNA Test
Introduction to the Noonan Rasopathies Panel NGS Genetic DNA Test
The Noonan Rasopathies Panel NGS Genetic DNA Test is a comprehensive diagnostic tool designed to identify genetic mutations associated with Noonan syndrome and other related disorders. This test utilizes Next Generation Sequencing (NGS) technology to analyze specific genes that are known to contribute to dysmorphic features and developmental delays. Understanding these genetic conditions is crucial for early intervention and management, making this test an essential resource for pediatric patients.
What the Test Measures
This test measures and detects mutations in several genes, including BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, TSC1, and TSC2. These genes are associated with Noonan syndrome and related rasopathies, which can lead to various physical and developmental challenges.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of Noonan syndrome or related conditions, which may include:
- Dysmorphic facial features
- Growth delays
- Congenital heart defects
- Developmental delays
- Family history of genetic disorders
If you or your child show any of these symptoms, discussing the possibility of genetic testing with a healthcare provider is essential.
Benefits of Taking the Test
- Early diagnosis of genetic conditions
- Informed decision-making regarding treatment options
- Understanding the risk of passing on genetic conditions to offspring
- Access to genetic counseling and support resources
Understanding Your Results
Results from the Noonan Rasopathies Panel NGS Genetic DNA Test will provide valuable insights into the genetic basis of any identified conditions. A genetic counselor will help interpret the results, explaining their implications for health management and family planning.
Test Pricing
Test Name | Discount Price (NGN) | Regular Price (NGN) |
---|---|---|
Noonan Rasopathies Panel NGS Genetic DNA Test | 400,000 NGN | 600,000 NGN |
How to Book the Test
To book the Noonan Rasopathies Panel NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and providing any additional information you may need.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by the listed genes.
Specialty and Department
This test falls under the specialty of Pediatrics, within the Genetics department, utilizing NGS technology to diagnose dysmorphology-related disorders.