Short Description

NGS genetic DNA test detecets for variant and mutation detection in VAPB gene for Amyotrophic lateral sclerosis type 8

PreTest Information

Clinical History of Patient who is going for VAPB Gene Amyotrophic lateral sclerosis type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VAPB Gene Amyotrophic lateral sclerosis type 8

Detail Description

VAPB Gene and Amyotrophic Lateral Sclerosis Type 8: NGS Genetic DNA Test Cost INR 20,000

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects the nerve cells in the brain and spinal cord. It is also known as Lou Gehrig's disease, after the famous baseball player who was diagnosed with the disease in 1939. ALS is a rare disease, affecting approximately 2 out of every 100,000 people worldwide. The disease is characterized by a gradual loss of muscle function, leading to difficulty speaking, swallowing, and breathing.

ALS is caused by a combination of genetic and environmental factors. One of the genes that has been linked to ALS is the VAPB gene. Mutations in this gene have been associated with a rare form of the disease known as ALS type 8. The VAPB gene is involved in the regulation of membrane trafficking and vesicle fusion in the cell. Mutations in this gene are thought to disrupt the normal function of the cell, leading to the death of motor neurons.

Symptoms of ALS Type 8

The symptoms of ALS type 8 are similar to those of other forms of the disease. They typically begin with muscle weakness and twitching in the arms, legs, or tongue. As the disease progresses, the weakness spreads to other parts of the body, including the respiratory muscles. This can lead to difficulty breathing, which is a common cause of death in ALS patients.

Diagnosis of ALS Type 8

Diagnosis of ALS type 8 is typically made through a combination of clinical evaluation and genetic testing. A neurologist will perform a physical exam and take a detailed medical history to rule out other possible causes of the symptoms. Genetic testing can be performed using next-generation sequencing (NGS) technology to identify mutations in the VAPB gene.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for ALS type 8 is INR 20,000 in India. This test is typically covered by insurance, but patients should check with their provider to confirm coverage.

Conclusion

ALS type 8 is a rare form of the disease that is caused by mutations in the VAPB gene. Symptoms include muscle weakness and twitching, which can progress to difficulty breathing. Diagnosis is made through a combination of clinical evaluation and genetic testing using NGS technology. The cost of the test is INR 20,000 in India. Early diagnosis and treatment can help to slow the progression of the disease and improve quality of life for patients.

For more information on ALS type 8 and genetic testing, contact DNA Labs India.

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 VAPB Gene Amyotrophic lateral sclerosis type 8 NGS Genetic DNA Test