TNNT1 Gene Nemaline Myopathy Type 5 NGS Genetic DNA Test
The TNNT1 Gene Nemaline Myopathy Type 5 NGS Genetic DNA Test is an advanced diagnostic test designed to identify mutations in the TNNT1 gene associated with Nemaline Myopathy, a rare neuromuscular disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive genetic analysis, which is crucial for understanding the underlying causes of this condition.
Importance of the Test
Nemaline Myopathy is characterized by muscle weakness and wasting, which can significantly impact the quality of life. Early diagnosis through genetic testing is essential for effective management and treatment planning. This test not only helps in confirming a diagnosis but also aids in understanding the inheritance patterns within families, allowing for informed decision-making regarding family planning and treatment options.
What the Test Measures
This genetic test specifically measures the presence of mutations in the TNNT1 gene. By analyzing the genetic material from a blood sample or extracted DNA, healthcare providers can determine if an individual has a genetic predisposition to Nemaline Myopathy.
Who Should Consider This Test
Individuals who experience symptoms such as:
- Progressive muscle weakness
- Difficulty in movement or coordination
- Muscle cramps or pain
- A family history of muscular disorders
should consider undergoing this test. Additionally, individuals with a known family history of TNNT1 mutations may benefit from genetic counseling and testing.
Benefits of Taking the Test
- Accurate diagnosis of Nemaline Myopathy
- Informed family planning and genetic counseling
- Guidance for treatment options and management strategies
- Understanding the risk of passing the condition to future generations
Understanding Your Results
Upon receiving your test results, a healthcare provider will guide you through the findings. Positive results indicate the presence of TNNT1 mutations, while negative results suggest no identified mutations. It is important to discuss the implications of these results with a genetic counselor or specialist.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
TNNT1 Gene Nemaline Myopathy Type 5 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. We accept blood samples or extracted DNA, and we also offer a home sample collection service for your convenience. Prior to testing, a genetic counseling session is recommended to discuss your clinical history and to draw a pedigree chart of affected family members.
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, ready to assist you. To book the TNNT1 Gene Nemaline Myopathy Type 5 NGS Genetic DNA Test, call or WhatsApp us at +254711564616. Take the first step towards understanding your health today!