Short Description

NGS genetic DNA test detecets for variant and mutation detection in UBQLN2 gene for Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS

PreTest Information

Clinical History of Patient who is going for UBQLN2 Gene Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with UBQLN2 Gene Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS

Detail Description

UBQLN2 Gene and Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a neurological disorder that affects the motor neurons responsible for controlling the movement of muscles in the body. The condition is also known as Lou Gehrig's disease, named after the famous baseball player who was diagnosed with the disease in the 1930s. ALS can occur in both adults and children, and it can be inherited in some cases.

X-linked juvenile and adult-onset ALS are two types of the disease that are caused by mutations in the UBQLN2 gene. This gene provides instructions for making a protein that plays a role in the normal functioning of cells. Mutations in the UBQLN2 gene can lead to the accumulation of toxic protein aggregates in the cells, which can cause damage to the motor neurons and lead to the development of ALS.

Symptoms of ALS

The symptoms of ALS typically start with muscle weakness and cramps, which can progress to muscle wasting and difficulty in moving. The disease can affect the muscles responsible for speech, swallowing, and breathing, which can lead to difficulty in communication and respiratory failure. Other symptoms of ALS include:

• Twitching and spasms in the muscles
• Difficulty in walking and maintaining balance
• Difficulty in holding objects and performing fine motor tasks
• Increased muscle stiffness and spasticity

Diagnosis of ALS

The diagnosis of ALS is usually based on a combination of clinical symptoms, physical examination, and diagnostic tests. The doctor may perform a neurological examination to assess the strength and movement of the muscles, reflexes, and sensory functions. Diagnostic tests such as electromyography (EMG) and nerve conduction studies (NCS) can help to evaluate the electrical activity of the muscles and nerves.

Genetic testing can also be used to diagnose ALS in some cases, especially when the disease is inherited. NGS (Next-Generation Sequencing) is a genetic test that can analyze the DNA sequence of the UBQLN2 gene and detect mutations that are associated with ALS. The cost of the NGS genetic DNA test for UBQLN2 gene analysis in India is around INR 20,000.

Conclusion

ALS is a debilitating disease that affects the motor neurons and can lead to severe disability and loss of life. X-linked juvenile and adult-onset ALS are two types of the disease that are caused by mutations in the UBQLN2 gene. Genetic testing can help to diagnose the disease in some cases, and NGS is a genetic test that can analyze the DNA sequence of the UBQLN2 gene. The cost of the NGS genetic DNA test for UBQLN2 gene analysis in India is around INR 20,000.

It is important to raise awareness about ALS and promote early diagnosis and treatment to improve the quality of life of the patients and their families.