Short Description

NGS genetic DNA test detecets for variant and mutation detection in GAN gene for Giant axonal neuropathy type 1

PreTest Information

Clinical History of Patient who is going for GAN Gene Giant axonal neuropathy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GAN Gene Giant axonal neuropathy type 1

Detail Description

GAN Gene Giant Axonal Neuropathy Type 1 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Giant Axonal Neuropathy (GAN) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. This protein helps to maintain the structure of nerve cells, and mutations in the GAN gene result in the production of a faulty gigaxonin protein that cannot perform its function properly.

GAN is an autosomal recessive condition, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder. The symptoms of GAN usually begin in early childhood and can include:

• Weakness in the limbs
• Difficulty walking
• Loss of sensation in the limbs
• Abnormal curvature of the spine
• Optic atrophy

Diagnosis of GAN is typically made through a combination of clinical evaluation, nerve conduction studies, and genetic testing. Genetic testing is the most definitive way to diagnose GAN, as it can identify mutations in the GAN gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it can sequence large portions of the genome at once, allowing for the identification of multiple mutations in a single test.

DNA Labs India offers a GAN Gene Giant Axonal Neuropathy Type 1 NGS Genetic DNA Test for INR 20000. This test uses NGS technology to sequence the GAN gene and identify mutations that are associated with GAN. The test is performed on a small sample of blood or saliva, and results are typically available within 2-3 weeks.

The cost of the GAN Gene Giant Axonal Neuropathy Type 1 NGS Genetic DNA Test may seem high, but it is important to consider the value of early diagnosis. Early diagnosis can help to ensure that patients receive appropriate treatment and support, and can also help to inform family planning decisions.

In conclusion, GAN is a rare genetic disorder that can have significant impacts on a patient's quality of life. Genetic testing, including the GAN Gene Giant Axonal Neuropathy Type 1 NGS Genetic DNA Test offered by DNA Labs India, can provide important information for diagnosis and treatment. While the cost of genetic testing may seem high, it is important to consider the potential benefits of early diagnosis.

Key Takeaways

• Giant Axonal Neuropathy (GAN) is a rare genetic disorder that affects the nervous system.
• GAN is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin.
• NGS technology can sequence the GAN gene and identify mutations that are associated with GAN.
• The GAN Gene Giant Axonal Neuropathy Type 1 NGS Genetic DNA Test offered by DNA Labs India costs INR 20000.
• Early diagnosis can help to ensure that patients receive appropriate treatment and support, and can also help to inform family planning decisions.

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 GAN Gene Giant axonal neuropathy type 1 NGS Genetic DNA Test