Short Description

NGS genetic DNA test detecets for variant and mutation detection in SH3TC2 gene for CMT4C

PreTest Information

Clinical History of Patient who is going for SH3TC2 Gene CMT4C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SH3TC2 Gene CMT4C

Detail Description

SH3TC2 Gene CMT4C NGS Genetic DNA Test | DNA Labs India

Introduction

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves responsible for movement and sensation. CMT4C is a rare subtype of CMT caused by mutations in the SH3TC2 gene. DNA Labs India offers a genetic DNA test for SH3TC2 Gene CMT4C using Next Generation Sequencing (NGS) technology.

Cost

The cost of SH3TC2 Gene CMT4C NGS Genetic DNA Test at DNA Labs India is INR 20000.

Symptoms

The symptoms of CMT4C usually begin in early childhood or adolescence. The most common symptoms include:

• Muscle weakness and wasting in the feet, lower legs, hands, and forearms
• Difficulty walking, running, or climbing stairs
• Numbness, tingling, or burning sensation in the feet and hands
• Loss of sensation in the feet and hands
• Foot deformities such as high arches or flat feet
• Hearing loss

Diagnosis

SH3TC2 Gene CMT4C NGS Genetic DNA Test can help diagnose CMT4C. The test detects mutations in the SH3TC2 gene, which is responsible for producing a protein that is important for the health of peripheral nerves. A positive test result indicates that the patient has CMT4C. Other tests such as nerve conduction studies and electromyography may be done to confirm the diagnosis and determine the severity of the disease.

Conclusion

SH3TC2 Gene CMT4C NGS Genetic DNA Test is a useful tool for diagnosing CMT4C. Early diagnosis and treatment can help manage the symptoms and improve the quality of life of patients. DNA Labs India offers this test at an affordable cost of INR 20000.

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 SH3TC2 Gene CMT4C NGS Genetic DNA Test