Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNAJB2 gene for Spinal muscular atrophy type 5

PreTest Information

Clinical History of Patient who is going for DNAJB2 Gene Spinal muscular atrophy type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DNAJB2 Gene Spinal muscular atrophy type 5

Detail Description

DNAJB2 Gene and Spinal Muscular Atrophy Type 5: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spinal Muscular Atrophy Type 5 (SMA5) is a rare genetic disorder that affects the muscles used for movement. It is caused by a mutation in the DNAJB2 gene, which is responsible for producing a protein that helps in the proper functioning of nerve cells.

Individuals with SMA5 experience muscle weakness and atrophy, which can lead to difficulty in walking, standing, and even sitting up. The symptoms of SMA5 typically develop in early childhood or adolescence and worsen over time.

Symptoms of Spinal Muscular Atrophy Type 5

The symptoms of Spinal Muscular Atrophy Type 5 include:

• Muscle weakness and atrophy
• Difficulty in walking, standing, and sitting up
• Contractures or abnormal tightening of muscles and tendons
• Scoliosis or curvature of the spine
• Respiratory problems

Diagnosis of Spinal Muscular Atrophy Type 5

Diagnosing Spinal Muscular Atrophy Type 5 involves a series of tests and examinations, including:

• Physical examination to check for muscle weakness and atrophy
• Electromyography (EMG) to measure the electrical activity of muscles
• Nerve conduction studies to evaluate the speed of nerve impulses
• Muscle biopsy to examine a small sample of muscle tissue under a microscope
• Genetic testing to identify mutations in the DNAJB2 gene

NGS Genetic DNA Test Cost for Spinal Muscular Atrophy Type 5

NGS (Next-Generation Sequencing) Genetic DNA Test for Spinal Muscular Atrophy Type 5 is a specialized test that can identify mutations in the DNAJB2 gene. The cost of this test in India is approximately INR 20,000.

This test is highly accurate and can provide valuable information about an individual's risk of developing Spinal Muscular Atrophy Type 5 or passing it on to their children. It can also help in the early diagnosis and treatment of the condition, which can improve the quality of life for affected individuals.

Conclusion

Spinal Muscular Atrophy Type 5 is a rare genetic disorder that can cause muscle weakness and atrophy. It is caused by mutations in the DNAJB2 gene, which can be identified through NGS Genetic DNA Testing. Early diagnosis and treatment can help in managing the symptoms of the condition and improving the quality of life for affected individuals.

If you or someone you know is experiencing symptoms of Spinal Muscular Atrophy Type 5, it is important to consult a healthcare professional for proper diagnosis and treatment.

For more information on NGS Genetic DNA Testing for Spinal Muscular Atrophy Type 5 and other genetic disorders, visit DNA Labs India.