Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A22 gene for Early infantile epileptic encephalopathy type 3

PreTest Information

Clinical History of Patient who is going for SLC25A22 Gene Early infantile epileptic encephalopathy type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC25A22 Gene Early infantile epileptic encephalopathy type 3

Detail Description

SLC25A22 Gene Early Infantile Epileptic Encephalopathy Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy (EIEE) is a rare genetic disorder that affects infants. It is characterized by severe seizures that begin in the first few months of life. EIEE is a heterogeneous disorder that can be caused by mutations in several genes, including the SLC25A22 gene. The SLC25A22 gene provides instructions for making a protein that is involved in the transport of mitochondrial proteins. Mutations in this gene can lead to a deficiency of the protein, which can cause EIEE type 3.

Symptoms of EIEE Type 3

The symptoms of EIEE type 3 typically begin within the first six months of life. Infants with this condition experience frequent seizures that can be difficult to control. These seizures can be focal or generalized and can last for several minutes. Other symptoms of EIEE type 3 may include:

• Developmental delay
• Intellectual disability
• Stiff or weak muscles
• Poor coordination
• Abnormal eye movements
• Difficulty feeding
• Respiratory problems

Diagnosis of EIEE Type 3

Diagnosis of EIEE type 3 is typically made through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can be used to identify mutations in the SLC25A22 gene. This test can be performed on a blood sample or a sample of saliva. A positive result confirms the diagnosis of EIEE type 3.

Cost of SLC25A22 Gene Early Infantile Epileptic Encephalopathy Type 3 NGS Genetic DNA Test

The cost of the SLC25A22 gene early infantile epileptic encephalopathy type 3 NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the laboratory and location.

Conclusion

Early infantile epileptic encephalopathy type 3 is a rare genetic disorder that can cause severe seizures and developmental delays in infants. Genetic testing, such as NGS, can be used to diagnose this condition by identifying mutations in the SLC25A22 gene. The cost of this test in India is approximately INR 20,000. If you suspect that your child may have EIEE type 3, talk to your doctor about genetic testing options.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS. Our team of experienced geneticists and counselors can help you understand your results and provide guidance on your next steps. Contact us today to learn more about our services.

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 SLC25A22 Gene Early infantile epileptic encephalopathy type 3 NGS Genetic DNA Test