Short Description

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease and the most devastating of the neurodegenerative disorders which leads to death of upper & lower motor neurons. _x000D_ The earliest sign of the disease is asymmetric weakness followed by progressive wasting & atrophy of muscles and fasciculations. Though ALS is a sporadic illness, but 10% of cases are inherited as an autosomal dominant trait called Familial ALS. Mutations in the C9orf72 gene account for 40-50% of familial ALS. SOD1 gene mutations cause 20% of familial ALS whereas TDP43 & FUS/TLS gene mutations each account for about 5% of such cases. Mutations in other genes like Optineurin, TBK1 & Profilin-1 each cause about 1% of cases. It is estimated that 60% of individuals with familial ALS have an identifiable genetic mutation.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: AMYOTROPHIC LATERAL SCLEROSIS Test cost INR:23400 symptoms diagnosis

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. Nx GEN SEQUENCING is a type of genetic testing that can help diagnose ALS and determine its progression.

Symptoms of ALS

The symptoms of ALS can vary from person to person, but typically include:

• Muscle weakness
• Twitching or cramping in muscles
• Difficulty speaking or swallowing
• Difficulty breathing

As ALS progresses, these symptoms may worsen and lead to paralysis.

Diagnosis of ALS

ALS is typically diagnosed through a combination of physical exams, medical history, and diagnostic tests. Nx GEN SEQUENCING can help with the diagnostic process by analyzing a patient's DNA for mutations that are associated with ALS.

Nx GEN SEQUENCING Test Cost

The cost of Nx GEN SEQUENCING for ALS testing at DNA Labs India is INR:23400. This cost includes the genetic testing and analysis, as well as consultation with a genetic counselor to discuss the results.

Why Choose DNA Labs India?

DNA Labs India is a trusted provider of genetic testing services, including Nx GEN SEQUENCING for ALS. Our team of experienced genetic counselors and scientists use state-of-the-art technology to provide reliable and accurate testing results. We also offer confidential and personalized service to each of our patients.

If you or a loved one is experiencing symptoms of ALS, contact DNA Labs India to learn more about Nx GEN SEQUENCING testing and how it can help with diagnosis and treatment.

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease and the most devastating of the neurodegenerative disorders which leads to death of upper & lower motor neurons. The earliest sign of the disease is asymmetric weakness followed by progressive wasting & atrophy of muscles and fasciculations. Though ALS is a sporadic illness, but 10% of cases are inherited as an autosomal dominant trait called Familial ALS. Mutations in the C9orf72 gene account for 40-50% of familial ALS. SOD1 gene mutations cause 20% of familial ALS whereas TDP43 & FUS/TLS gene mutations each account for about 5% of such cases. Mutations in other genes like Optineurin, TBK1 & Profilin-1 each cause about 1% of cases. It is estimated that 60% of individuals with familial ALS have an identifiable genetic mutation.