Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLRB gene for Hyperekplexia

PreTest Information

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

Detail Description

GLRB Gene Hyperekplexia NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Hyperekplexia is a rare neurological disorder that causes excessive startle responses and muscle stiffness. The condition is caused by mutations in various genes, including the GLRB gene. DNA Labs India offers a Genetic DNA Test that can detect mutations in the GLRB gene and diagnose hyperekplexia. The cost of the test is INR 20,000.

What is the GLRB Gene?

The GLRB gene provides instructions for making a protein called glycine receptor beta. This protein is essential for the normal functioning of glycine receptors, which are involved in the transmission of signals between nerve cells in the brain and spinal cord. Mutations in the GLRB gene can disrupt the normal functioning of glycine receptors, leading to hyperekplexia.

Symptoms of Hyperekplexia

The primary symptom of hyperekplexia is an exaggerated startle response. This means that affected individuals may experience a strong and sudden muscle contraction in response to unexpected noises or movements. These muscle contractions can cause falls, which can be dangerous. Other symptoms of hyperekplexia may include:

• Muscle stiffness
• Difficulty moving
• Difficulty feeding in infants
• Seizures
• Developmental delay
• Intellectual disability

Diagnosis of Hyperekplexia

Hyperekplexia is diagnosed based on the presence of symptoms and a clinical examination. However, genetic testing can confirm the diagnosis and identify the specific genetic mutation responsible for the condition. The Genetic DNA Test offered by DNA Labs India can detect mutations in the GLRB gene and diagnose hyperekplexia.

Cost of the GLRB Gene Hyperekplexia NGS Genetic DNA Test

The cost of the Genetic DNA Test for GLRB Gene Hyperekplexia NGS is INR 20,000. This test uses Next Generation Sequencing (NGS) technology to analyze the entire GLRB gene and detect mutations that may be causing hyperekplexia. The results of the test can help healthcare providers make an accurate diagnosis and develop an appropriate treatment plan.

Conclusion

Hyperekplexia is a rare neurological disorder that can be caused by mutations in the GLRB gene. DNA Labs India offers a Genetic DNA Test that can detect mutations in the GLRB gene and diagnose hyperekplexia. The cost of the test is INR 20,000. If you or a loved one are experiencing symptoms of hyperekplexia, talk to your healthcare provider about genetic testing options.

For more information or to schedule a Genetic DNA Test, 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 GLRB Gene Hyperekplexia NGS Genetic DNA Test