Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASAH1 gene for Spinal muscular atrophy with progressive myoclonic epilepsy

PreTest Information

Clinical History of Patient who is going for ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy

Detail Description

ASAH1 Gene Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy NGS Genetic DNA Test

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the ASAH1 gene, which provides instructions for making an enzyme called acid ceramidase. This enzyme is essential for the breakdown of a fatty substance called ceramide, which is involved in many cellular processes. When the ASAH1 gene is mutated, it leads to the accumulation of ceramide in the body, which damages the nervous system and causes the symptoms of SMA-PME.

Symptoms of SMA-PME

The symptoms of SMA-PME can vary widely depending on the severity of the condition. Some common symptoms include:

• Muscle weakness and wasting
• Tremors and involuntary movements (myoclonus)
• Seizures
• Intellectual disability and developmental delays
• Speech and language difficulties

Diagnosis of SMA-PME

Diagnosing SMA-PME can be challenging, as it is a rare disorder that shares symptoms with other neurological conditions. However, genetic testing can help to confirm a diagnosis of SMA-PME. The ASAH1 gene NGS Genetic DNA Test is a highly accurate and specific test that can detect mutations in the ASAH1 gene associated with SMA-PME. This test involves sequencing the entire ASAH1 gene to identify any mutations that may be present.

Cost of ASAH1 Gene NGS Genetic DNA Test

The cost of the ASAH1 Gene NGS Genetic DNA Test in India is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in India. DNA Labs India uses state-of-the-art technology and the latest testing methods to provide accurate and reliable results.

Conclusion

If you or a loved one is experiencing symptoms of SMA-PME, it is important to seek medical attention and consider genetic testing. The ASAH1 Gene NGS Genetic DNA Test can provide valuable information for diagnosis and treatment planning, and is available at an affordable cost through DNA Labs India.

For more information about the ASAH1 Gene NGS Genetic DNA Test or to schedule an appointment, contact DNA Labs India today.