Short Description

List of genes tested using NGS technology for detection of variant and mutation in Amyotrophic lateral sclerosis (ALS) panel are ALS2, ANG, C9orf72, CHCHD10, CHMP2B, CSF1R, DCTN1, ERBB4, FIG4, FUS, GRN, HNRNPA1, ITM2B, KIF5A, MAPT, MATR3, NEFH, OPTN, PFN1, PRNP, PRPH, PSEN1, PSEN2, SETX, SIGMAR1, SLC52A3, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, VAPB, VCP

PreTest Information

Clinical History of Patient who is going for Amyotrophic lateral sclerosis (ALS) panel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Amyotrophic lateral sclerosis (ALS) panel

Detail Description

Amyotrophic lateral sclerosis (ALS) panel NGS Genetic DNA Test

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. It leads to a loss of voluntary muscle control, eventually resulting in paralysis and death. ALS is a rare disease, with an incidence of only 1-2 cases per 100,000 people. However, it is a devastating disease that affects the lives of those who have it and their families.

Symptoms of ALS

The symptoms of ALS typically begin with muscle weakness or stiffness. Over time, the muscles affected by the disease become progressively weaker and smaller. This can lead to difficulty with walking, swallowing, speaking, and breathing. As the disease progresses, patients may become completely paralyzed and unable to communicate.

Diagnosis of ALS

Diagnosing ALS can be challenging because there is no single test that can definitively identify the disease. Instead, doctors must rely on a combination of medical history, physical examination, and tests to rule out other conditions. Some of the tests that may be used to diagnose ALS include:

• Electromyography (EMG)
• Nerve conduction study (NCS)
• Magnetic resonance imaging (MRI)
• Blood and urine tests

NGS Genetic DNA Test for ALS

Recent advances in genetics have made it possible to identify genetic mutations that can cause ALS. The ALS panel NGS Genetic DNA Test is a specialized genetic test that can identify mutations in genes associated with ALS. This test uses next-generation sequencing (NGS) technology to analyze multiple genes simultaneously, providing a comprehensive analysis of a patient's genetic risk for ALS.

Cost of ALS Panel NGS Genetic DNA Test

The cost of the ALS panel NGS Genetic DNA Test varies depending on the laboratory that performs the test. In India, the cost of the test is typically around INR 20,000.

Conclusion

ALS is a devastating disease that affects the lives of those who have it and their families. While there is currently no cure for ALS, advances in genetics have made it possible to identify genetic mutations that can cause the disease. The ALS panel NGS Genetic DNA Test is a specialized genetic test that can identify these mutations, providing patients and their families with important information about their genetic risk for ALS. If you or a loved one are concerned about ALS, speak with a healthcare professional about whether genetic testing may be right for you.

Remember, early detection and diagnosis can help improve the quality of life for those with ALS.

Key Takeaways:

• ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord.
• The ALS panel NGS Genetic DNA Test is a specialized genetic test that can identify mutations in genes associated with ALS.
• The cost of the ALS panel NGS Genetic DNA Test is typically around INR 20,000 in India.
• Early detection and diagnosis can help improve the quality of life for those with ALS.