Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHMP2B gene for Amyotrophic lateral sclerosis type 17

PreTest Information

Clinical History of Patient who is going for CHMP2B Gene Amyotrophic lateral sclerosis type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHMP2B Gene Amyotrophic lateral sclerosis type 17

Detail Description

CHMP2B Gene and Amyotrophic Lateral Sclerosis Type 17: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's Disease, is a rare neurodegenerative disorder that affects the motor neurons responsible for controlling voluntary muscles. The disease causes muscle weakness, stiffness, and atrophy that eventually leads to paralysis. CHMP2B gene mutation is one of the rare genetic mutations associated with ALS Type 17. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for CHMP2B Gene and ALS Type 17 in India.

CHMP2B Gene Mutation and ALS Type 17

CHMP2B (Charged Multivesicular Body Protein 2B) gene mutation is a rare genetic mutation that has been associated with ALS Type 17. The CHMP2B gene codes for a protein that is involved in the degradation and recycling of waste products in the cells. Mutation in this gene can lead to the accumulation of waste products in the motor neurons, causing their dysfunction and eventual death. This can result in the development of ALS Type 17.

Symptoms of ALS Type 17

The symptoms of ALS Type 17 are similar to those of other forms of ALS. The disease affects the motor neurons responsible for controlling the voluntary muscles, leading to muscle weakness, stiffness, and atrophy. The initial symptoms of ALS Type 17 may include:

• Difficulty in walking or performing daily tasks
• Slurred speech
• Difficulty in swallowing
• Weakness in the arms or legs
• Muscle cramps or twitching

As the disease progresses, the symptoms may worsen, leading to difficulty in breathing, speaking, and swallowing. In the later stages, the patient may become completely paralyzed and require assistance with breathing and feeding.

Diagnosis of ALS Type 17

The diagnosis of ALS Type 17 is based on a combination of clinical examination, electromyography (EMG), nerve conduction studies, and genetic testing. A neurologist may perform a physical examination to assess the patient's muscle strength, reflexes, and coordination. EMG and nerve conduction studies may be used to evaluate the electrical activity of the muscles and nerves. Genetic testing may be recommended to identify the CHMP2B gene mutation.

NGS Genetic DNA Test Cost for CHMP2B Gene and ALS Type 17 in India

DNA Labs India is a leading provider of NGS genetic DNA testing services in India. The cost of NGS genetic DNA testing for CHMP2B Gene and ALS Type 17 is INR 20,000. The test involves the sequencing of the patient's DNA to identify any mutations in the CHMP2B gene. The test report provides information on the patient's genetic status and the risk of developing ALS Type 17.

Conclusion

ALS Type 17 is a rare form of ALS that is caused by a mutation in the CHMP2B gene. The disease affects the motor neurons responsible for controlling the voluntary muscles, leading to muscle weakness, stiffness, and atrophy. The diagnosis of ALS Type 17 involves a combination of clinical examination, EMG, nerve conduction studies, and genetic testing. NGS genetic DNA testing for CHMP2B Gene and ALS Type 17 is available in India at a cost of INR 20,000. Early diagnosis and genetic testing can help in the management of the disease and improve the patient's quality of life.

The CHMP2B gene (Charged Multivesicular Body Protein 2B gene) is associated with a genetic disorder known as Amyotrophic Lateral Sclerosis Type 17 (ALS17), also referred to as Frontotemporal Dementia (FTD) linked to chromosome 3 (FTD3).