Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPTAN1 gene for Early infantile epileptic encephalopathy type 5

PreTest Information

Clinical History of Patient who is going for SPTAN1 Gene Early infantile epileptic encephalopathy type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPTAN1 Gene Early infantile epileptic encephalopathy type 5

Detail Description

SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Early Infantile Epileptic Encephalopathy (EIEE) is a rare genetic disorder that affects infants and young children. This disorder is characterized by seizures that start in the first few months of life and developmental delays. One of the types of EIEE is caused by mutations in the SPTAN1 gene. This type is called Early Infantile Epileptic Encephalopathy Type 5 (EIEE5).

What is the SPTAN1 gene?

The SPTAN1 gene provides instructions for making a protein called alpha-II spectrin. This protein is important for maintaining the shape and stability of cells in the brain and other parts of the body. Mutations in the SPTAN1 gene can disrupt the normal function of alpha-II spectrin, leading to EIEE5.

What are the symptoms of EIEE5?

The symptoms of EIEE5 include:

• Seizures that start in the first few months of life
• Developmental delays
• Intellectual disability
• Ataxia (uncoordinated movements)
• Hypotonia (poor muscle tone)
• Dysarthria (difficulty speaking)

How is EIEE5 diagnosed?

EIEE5 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once. A NGS genetic DNA test for EIEE5 can identify mutations in the SPTAN1 gene and confirm a diagnosis of EIEE5.

What is the cost of an SPTAN1 gene NGS genetic DNA test?

The cost of an SPTAN1 gene NGS genetic DNA test in India is around INR 20000.

Conclusion

Early Infantile Epileptic Encephalopathy Type 5 (EIEE5) is a rare genetic disorder caused by mutations in the SPTAN1 gene. This disorder is characterized by seizures that start in the first few months of life and developmental delays. EIEE5 can be diagnosed through genetic testing, specifically through a NGS genetic DNA test for the SPTAN1 gene. The cost of this test in India is around INR 20000.

It is important to raise awareness about rare genetic disorders like EIEE5 to ensure early diagnosis and treatment. DNA Labs India offers NGS genetic DNA testing for EIEE5 and other rare genetic disorders. Contact us today to learn more.

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 SPTAN1 Gene Early infantile epileptic encephalopathy type 5 NGS Genetic DNA Test