Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLRA1 gene for Hyperekplexia

PreTest Information

Clinical History of Patient who is going for GLRA1 Gene Hyperekplexia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GLRA1 Gene Hyperekplexia

Detail Description

GLRA1 Gene Hyperekplexia NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Hyperekplexia is a rare genetic disorder that causes an exaggerated startle reflex. This condition is caused by mutations in several genes, including the GLRA1 gene. GLRA1 gene mutations are responsible for around 80% of cases of hyperekplexia.

The GLRA1 gene provides instructions for making a protein called the alpha-1 subunit of the glycine receptor. This protein plays a crucial role in the communication between nerve cells in the brain and spinal cord. Mutations in the GLRA1 gene can disrupt this communication, leading to the symptoms of hyperekplexia.

Symptoms of Hyperekplexia

The main symptom of hyperekplexia is an exaggerated startle reflex. This means that affected individuals have an abnormally strong and prolonged response to sudden noises, movements, or touch. This can cause them to fall, lose their balance, or even experience seizures. Other symptoms of hyperekplexia may include:

• Stiffness and rigidity of the limbs
• Difficulty relaxing the muscles
• Frequent falls
• Difficulty feeding in infants
• Speech problems

Diagnosis of Hyperekplexia

Hyperekplexia is usually diagnosed based on the symptoms and a physical exam. Genetic testing can confirm a diagnosis and identify the specific gene mutation responsible for the condition. The GLRA1 gene can be analyzed using Next Generation Sequencing (NGS) technology, which can detect small changes in the DNA sequence.

GLRA1 Gene Hyperekplexia NGS Genetic DNA Test Cost INR:20000

DNA Labs India offers GLRA1 Gene Hyperekplexia NGS Genetic DNA Test at a cost of INR 20000. This test uses state-of-the-art NGS technology to analyze the DNA sequence of the GLRA1 gene and detect any mutations or changes that may be responsible for hyperekplexia. The test is performed using a blood or saliva sample and takes around 2-3 weeks for results to be available.

Conclusion

Hyperekplexia is a rare genetic disorder that can cause significant problems for affected individuals. GLRA1 gene mutations are responsible for around 80% of cases of this condition. Genetic testing using NGS technology can confirm a diagnosis and identify the specific gene mutation responsible for the condition. DNA Labs India offers GLRA1 Gene Hyperekplexia NGS Genetic DNA Test at a cost of INR 20000, making it accessible to those who need it.

By detecting and identifying the specific gene mutation responsible for hyperekplexia, healthcare providers can provide targeted treatment and management strategies that can improve outcomes and quality of life for affected individuals.

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 GLRA1 Gene Hyperekplexia NGS Genetic DNA Test