Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBC1D24 gene for Early infantile epileptic encephalopathy type 16

PreTest Information

Clinical History of Patient who is going for TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TBC1D24 Gene Early infantile epileptic encephalopathy type 16

Detail Description

TBC1D24 Gene: Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test

Early Infantile Epileptic Encephalopathy (EIEE) is a severe neurological disorder that affects infants and young children. It is characterized by seizures, developmental delays, and intellectual disabilities. EIEE Type 16 is caused by mutations in the TBC1D24 gene.

The TBC1D24 gene provides instructions for making a protein that helps regulate the activity of other proteins in the brain. Mutations in this gene disrupt the normal functioning of the brain, leading to seizures and other neurological symptoms.

Symptoms of EIEE Type 16

The symptoms of EIEE Type 16 usually appear within the first few months of life. They include:

• Seizures
• Developmental delays
• Intellectual disabilities
• Speech and language difficulties
• Abnormal muscle tone
• Abnormal eye movements
• Behavioral problems

Diagnosis

EIEE Type 16 is diagnosed through genetic testing. A blood sample is taken from the patient, and the DNA is analyzed to detect mutations in the TBC1D24 gene.

NGS (Next-Generation Sequencing) is a powerful tool for genetic testing. It allows for the analysis of multiple genes at once, which can save time and money compared to traditional genetic testing methods.

Cost of the Test

The cost of the EIEE Type 16 NGS Genetic DNA Test is INR 20,000.

Conclusion

The TBC1D24 gene is responsible for regulating the activity of other proteins in the brain. Mutations in this gene can lead to the development of EIEE Type 16, a severe neurological disorder that affects infants and young children. Genetic testing, such as NGS, is an effective way to diagnose this condition. The cost of the test is INR 20,000.

If you suspect that your child may have EIEE Type 16, it is important to consult with a healthcare professional who can provide a proper diagnosis and treatment plan.

At DNA Labs India, we offer a wide range of genetic testing services, including the EIEE Type 16 NGS Genetic DNA Test. Our team of experienced geneticists and counselors can help you understand the results of your test and provide guidance on the best course of action.

Contact us today to learn more about our services and how we can help you.

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 Early infantile epileptic encephalopathy type 16 NGS Genetic DNA Test