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Accurate Test Results for TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic DNA Test
TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic DNA Test Cost 20000 Rs
TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic DNA Test Details
TBC1D24 Gene Familial Infantile Myoclonic Epilepsy NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis, and Treatment
Infantile myoclonic epilepsy (IME) is a rare, genetic disorder that affects young children and is characterized by myoclonic seizures. It is caused by mutations in the TBC1D24 gene that codes for a protein involved in the function of nerve cells in the brain. DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for TBC1D24 gene mutations at a cost of INR 20000. This test can help diagnose IME and provide crucial information for treatment.
Symptoms of TBC1D24 Gene Familial Infantile Myoclonic Epilepsy
The symptoms of IME typically appear between 6 months and 3 years of age and include:
- Myoclonic seizures
- Tonic-clonic seizures
- Absence seizures
- Intellectual disability
- Delayed development
Myoclonic seizures are brief, sudden muscle movements that can affect one or both sides of the body. Tonic-clonic seizures involve the entire body and can cause loss of consciousness, convulsions, and muscle rigidity. Absence seizures are characterized by a brief loss of consciousness and staring spells.
Diagnosis of TBC1D24 Gene Familial Infantile Myoclonic Epilepsy
The diagnosis of IME involves a thorough medical history, physical examination, and neurological evaluation. The NGS genetic DNA test for TBC1D24 gene mutations offered by DNA Labs India can help confirm the diagnosis and identify the specific mutation responsible for the disorder. This information is crucial for genetic counseling and family planning.
Treatment of TBC1D24 Gene Familial Infantile Myoclonic Epilepsy
IME is a lifelong disorder, but treatment can help control seizures and improve quality of life. Anticonvulsant medications are the first-line treatment for IME and can be effective in reducing the frequency and severity of seizures. In some cases, a ketogenic diet or brain surgery may be recommended.
Conclusion
TBC1D24 gene familial infantile myoclonic epilepsy is a rare, genetic disorder that can be diagnosed through a NGS genetic DNA test. DNA Labs India offers this test at a cost of INR 20000. Early diagnosis and treatment can help control seizures and improve quality of life for individuals with IME. If you suspect your child may have IME, consult with a healthcare professional to discuss testing options.
For more information about the TBC1D24 gene familial infantile myoclonic epilepsy NGS genetic DNA test, please contact DNA Labs India at info@dnalabsindia.com or visit our website at www.dnalabsindia.com.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic DNA Test
