Short Description

NGS genetic DNA test detecets for variant and mutation detection in GFAP gene for Alexander disease

PreTest Information

Clinical History of Patient who is going for GFAP Gene Alexander disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GFAP Gene Alexander disease

Detail Description

GFAP Gene Alexander Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Alexander disease is a rare and degenerative neurological disorder that primarily affects infants and children. It is a genetic disorder caused by mutations in the GFAP gene. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein, which is essential for the structure and function of astrocytes, a type of cell in the brain and spinal cord.

NGS Genetic DNA test is a diagnostic test that uses next-generation sequencing technology to analyze the DNA sequence of the GFAP gene. This test can detect mutations in the GFAP gene that are associated with Alexander disease. The cost of this test in India is INR 20,000.

Symptoms of Alexander Disease

The symptoms of Alexander disease usually appear in infancy or early childhood, although they can develop later in life. The symptoms may include:

• Developmental delays
• Seizures
• Poor coordination and muscle control
• Loss of developmental milestones
• Difficulty swallowing
• Speech problems
• Vision problems
• Enlarged head (macrocephaly)
• Progressive mental impairment
• Progressive spasticity and stiffness in the limbs

Diagnosis of Alexander Disease

Diagnosing Alexander disease involves a combination of clinical evaluations, imaging tests, and genetic testing. Doctors will perform a physical exam and evaluate the patient's medical history and symptoms. Imaging tests such as MRI and CT scans can help identify the characteristic brain abnormalities associated with Alexander disease.

Genetic testing is the most definitive way to diagnose Alexander disease. The NGS Genetic DNA test can detect mutations in the GFAP gene that are associated with Alexander disease. This test can confirm a diagnosis of Alexander disease and help determine the best course of treatment.

Conclusion

Alexander disease is a rare and debilitating neurological disorder that primarily affects infants and children. Genetic testing, such as the NGS Genetic DNA test, can help diagnose Alexander disease and provide valuable information for treatment planning. The cost of this test in India is INR 20,000. If you suspect that you or someone you love has Alexander disease, it is important to speak with a doctor and explore all available diagnostic and treatment options.

For more information on genetic testing and Alexander disease, contact DNA Labs India today.

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 GFAP Gene Alexander disease NGS Genetic DNA Test