Short Description

NGS genetic DNA test detecets for variant and mutation detection in SBF2 gene for CMT4B2

PreTest Information

Clinical History of Patient who is going for SBF2 Gene CMT4B2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SBF2 Gene CMT4B2

Detail Description

SBF2 Gene CMT4B2 NGS Genetic DNA Test - Cost, Symptoms and Diagnosis

DNA Labs India offers a comprehensive genetic DNA test for the SBF2 gene mutation associated with Charcot-Marie-Tooth disease type 4B2 (CMT4B2). This NGS (Next Generation Sequencing) test provides accurate diagnosis and helps in the management of the disease. In this blog, we will discuss the symptoms, diagnosis, and cost of the SBF2 gene CMT4B2 NGS genetic DNA test.

What is Charcot-Marie-Tooth Disease type 4B2 (CMT4B2)?

CMT4B2 is a rare genetic disorder that affects the peripheral nerves and causes muscle weakness and wasting. The disease is caused by mutations in the SBF2 gene, which provides instructions for making a protein called myelin regulatory factor (Myrf). Myrf plays a crucial role in the formation and maintenance of myelin, a fatty substance that surrounds and protects nerve fibers. Mutations in the SBF2 gene lead to the loss of Myrf function, which results in the degeneration of the myelin sheath and the nerve fibers.

What are the symptoms of CMT4B2?

The symptoms of CMT4B2 usually appear in childhood or adolescence and progress slowly over time. The most common symptoms include:

• Muscle weakness and wasting, especially in the lower legs and feet
• Numbness and tingling in the hands and feet
• Difficulty walking and maintaining balance
• Hammertoes and high arches in the feet
• Scoliosis (curvature of the spine)

How is CMT4B2 diagnosed?

CMT4B2 is diagnosed based on the symptoms, family history, and genetic testing. A neurological examination may reveal muscle weakness and wasting, loss of reflexes, and sensory abnormalities. Nerve conduction studies and electromyography (EMG) can help to evaluate the function of the peripheral nerves and muscles. Genetic testing for the SBF2 gene mutation is the most definitive way to diagnose CMT4B2.

What is the SBF2 gene CMT4B2 NGS genetic DNA test?

The SBF2 gene CMT4B2 NGS genetic DNA test is a comprehensive genetic test that analyzes the entire coding region of the SBF2 gene. The test uses Next Generation Sequencing (NGS) technology to identify mutations or variants in the SBF2 gene. This test provides accurate and reliable results, which can help in the diagnosis and management of CMT4B2.

What is the cost of the SBF2 gene CMT4B2 NGS genetic DNA test?

The cost of the SBF2 gene CMT4B2 NGS genetic DNA test is INR 20,000. This cost includes the genetic testing, interpretation of results, and genetic counseling. DNA Labs India offers affordable and accessible genetic testing services to patients and healthcare providers.

Conclusion

The SBF2 gene CMT4B2 NGS genetic DNA test is a valuable tool for the diagnosis and management of Charcot-Marie-Tooth disease type 4B2. This comprehensive genetic test provides accurate and reliable results, which can help in the early detection of the disease and the implementation of appropriate treatment strategies. DNA Labs India is committed to providing high-quality and affordable genetic testing services to patients and healthcare providers.

Contact us today to learn more about our genetic testing services.

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 SBF2 Gene CMT4B2 NGS Genetic DNA Test