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Accurate Test Results for SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic DNA Test
SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic DNA Test Cost 20000 Rs
SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic DNA Test Details
SMN1 Gene Spinal Muscular Atrophy Type 2 NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis
Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein called survival motor neuron (SMN). This protein is essential for the normal functioning of motor neurons, and its absence leads to their degeneration.
SMA is classified into four types, based on the age of onset and severity of symptoms. Type 2 SMA is usually diagnosed in children between 6 and 18 months of age, and is characterized by moderate muscle weakness and delayed motor milestones. Children with type 2 SMA may be able to sit without support, but are unable to stand or walk independently.
Symptoms of SMN1 Gene Spinal Muscular Atrophy Type 2
The symptoms of type 2 SMA may include:
- Weakness in the muscles of the arms and legs
- Difficulty in standing or walking
- Delayed motor milestones, such as sitting without support
- Difficulty in breathing and swallowing
- Curvature of the spine (scoliosis)
Diagnosis of SMN1 Gene Spinal Muscular Atrophy Type 2
The diagnosis of type 2 SMA is usually based on the presence of symptoms and a genetic test to confirm the presence of the SMN1 gene mutation. The genetic test may involve Next-Generation Sequencing (NGS) technology, which can sequence multiple genes simultaneously and provide a comprehensive analysis of the patient's DNA. NGS Genetic DNA Test cost for SMN1 Gene Spinal Muscular Atrophy Type 2 may vary from INR:20,000 and above.
Conclusion
SMN1 Gene Spinal Muscular Atrophy Type 2 is a rare genetic disorder that affects the motor neurons in the spinal cord. It is caused by a mutation in the SMN1 gene, and is characterized by moderate muscle weakness and delayed motor milestones. The diagnosis of type 2 SMA is usually based on the presence of symptoms and a genetic test to confirm the presence of the SMN1 gene mutation. The NGS Genetic DNA Test cost for SMN1 Gene Spinal Muscular Atrophy Type 2 may vary from INR:20,000 and above. Early diagnosis and treatment can help improve the quality of life for children with type 2 SMA.
At DNA Labs India, we provide a wide range of genetic tests, including NGS Genetic DNA Test for SMN1 Gene Spinal Muscular Atrophy Type 2. Our tests are highly accurate, reliable, and affordable, and are conducted by a team of experienced and qualified geneticists. For more information about our genetic testing services, please contact us today.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic DNA Test
