TTN Gene Hereditary Myopathy with Early Respiratory Failure Genetic Test
At DNA Labs UAE, we offer the TTN Gene Hereditary Myopathy with Early Respiratory Failure Genetic Test. This test is designed to diagnose a genetic disorder that affects the skeletal muscles and respiratory system. It is caused by mutations in the TTN gene, which produces the titin protein.
Test Details
Individuals with TTN gene hereditary myopathy with early respiratory failure experience muscle weakness and wasting, particularly in the limbs. This weakness usually begins in early childhood and progresses over time. Respiratory failure, the inability to breathe effectively, is a common complication that can occur in infancy or childhood.
To diagnose this condition, we perform a genetic test called Next-Generation Sequencing (NGS). NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes, including the TTN gene. By sequencing an individual’s DNA, we can identify any mutations or changes in the TTN gene that may be responsible for the disorder.
NGS genetic testing can help confirm a diagnosis, guide treatment decisions, and provide information about the inheritance pattern of the condition. It is also useful for carrier testing in individuals with a family history of the disorder.
Test Components and Price
The TTN Gene Hereditary Myopathy with Early Respiratory Failure Genetic Test costs AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. The report will be delivered within 3 to 4 weeks.
Method and Test Type
The test is performed using NGS technology, which allows for efficient and accurate sequencing of the TTN gene. It falls under the category of neurological disorders and is conducted by our expert neurologists in the Genetics department.
Pre Test Information
Prior to the test, we recommend providing the clinical history of the patient who will undergo the TTN Gene Hereditary Myopathy with Early Respiratory Failure NGS Genetic DNA Test. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the disorder.
It is crucial to conduct genetic testing under the supervision of a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
| Test Name | TTN Gene Hereditary myopathy with early respiratory failure Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TTN Gene Hereditary myopathy with early respiratory failure |
| Test Details |
TTN gene hereditary myopathy with early respiratory failure is a genetic disorder that affects the skeletal muscles and the respiratory system. It is caused by mutations in the TTN gene, which provides instructions for producing a protein called titin. Titin is the largest known protein in the human body and plays a crucial role in muscle contraction and relaxation. Individuals with this condition typically experience muscle weakness and wasting, especially in the limbs. This weakness often starts in early childhood and progresses over time. Respiratory failure, which is the inability to breathe effectively, is a common complication of this disorder and can occur as early as infancy or childhood. To diagnose TTN gene hereditary myopathy with early respiratory failure, a genetic test called Next-Generation Sequencing (NGS) can be performed. NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes, including the TTN gene. This test involves sequencing the DNA of an individual to identify any mutations or changes in the TTN gene that may be responsible for the disorder. NGS genetic testing can help confirm a diagnosis, guide treatment decisions, and provide information about the inheritance pattern of the condition. It can also be used for carrier testing in individuals with a family history of the disorder. It is important to note that genetic testing should be conducted by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |