Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALS2 gene for Amyotrophic lateral sclerosis type 2, juvenile

PreTest Information

Clinical History of Patient who is going for ALS2 Gene Amyotrophic lateral sclerosis type 2, juvenile NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ALS2 Gene Amyotrophic lateral sclerosis type 2, juvenile

Detail Description

ALS2 Gene: Understanding Amyotrophic Lateral Sclerosis Type 2 in Juveniles

Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that affects the nerve cells responsible for controlling voluntary muscles. It is a progressive disease that leads to muscle weakness, wasting, and eventually paralysis. There are different types of ALS, and one of them is ALS Type 2, which is a juvenile form of the disease.

Understanding the ALS2 Gene

The ALS2 gene is located on chromosome 2 and is responsible for producing a protein called alsin. This protein is involved in the maintenance and function of nerve cells that control muscle movement. Mutations in the ALS2 gene can lead to the production of a faulty alsin protein, which can cause the death of motor neurons and lead to the development of ALS Type 2.

Symptoms of ALS Type 2

The symptoms of ALS Type 2 usually appear in childhood or adolescence, between the ages of 2 and 20 years old. The symptoms include:

• Difficulty walking and maintaining balance
• Muscle weakness and wasting, particularly in the legs
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Speech difficulties
• Breathing difficulties
• Difficulty swallowing

The symptoms of ALS Type 2 typically progress more slowly than other types of ALS, but they can still significantly impact a person's quality of life and lead to severe disability.

Diagnosis of ALS Type 2

Diagnosing ALS Type 2 involves a series of tests, including:

• Physical examination
• Electromyography (EMG) to test the electrical activity of muscles
• Nerve conduction studies to evaluate the function of nerves
• Muscle biopsy to examine muscle tissue
• Genetic testing to identify mutations in the ALS2 gene

NGS Genetic DNA Test for ALS Type 2

NGS Genetic DNA testing is a relatively new technology that allows for the rapid and accurate identification of genetic mutations associated with various diseases, including ALS Type 2. The test involves sequencing the DNA of the patient to identify any mutations in the ALS2 gene that may be causing the disease.

The cost of NGS Genetic DNA testing for ALS Type 2 in India is approximately INR 20,000. The test is usually covered by insurance, and some laboratories may offer financial assistance for those who cannot afford the cost.

Conclusion

ALS Type 2 is a rare form of ALS that affects juveniles. It is caused by mutations in the ALS2 gene, which produces a faulty alsin protein that leads to the death of motor neurons. The symptoms of ALS Type 2 include muscle weakness, wasting, and difficulty with motor skills, speech, and breathing. Diagnosis involves a series of tests, including genetic testing, which can be done using NGS Genetic DNA testing. The cost of the test in India is approximately INR 20,000 and may be covered by insurance or offered with financial assistance from some laboratories.

If you suspect that you or a loved one may have ALS Type 2, it is important to seek medical attention and undergo testing as soon as possible to ensure timely diagnosis and treatment.

For more information or to schedule a genetic DNA test for ALS Type 2, contact DNA Labs India today.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually respiratory failure. Mutations in various genes can contribute to the development of different types of ALS. The ALS2 gene is one of the genes associated with a specific subtype of ALS known as Amyotrophic Lateral Sclerosis Type 2, Juvenile (ALS2-J).