Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGD4 gene for CMT4H

PreTest Information

Clinical History of Patient who is going for FGD4 Gene CMT4H NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FGD4 Gene CMT4H

Detail Description

FGD4 Gene CMT4H NGS Genetic DNA Test

Introduction

Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare genetic disorder that affects the peripheral nerves. It is caused by mutations in the FGD4 gene. The FGD4 gene provides instructions for making a protein that is important for the growth and maintenance of nerve cells. Mutations in this gene lead to the production of an abnormal protein that cannot perform its normal function, resulting in the death of nerve cells.

NGS (Next Generation Sequencing) Genetic DNA Test is a powerful tool that can identify mutations in the FGD4 gene and diagnose CMT4H.

Symptoms

• Muscle weakness in the feet, ankles, and legs
• Difficulty walking
• Frequent falls
• Numbness and tingling in the hands and feet
• Loss of muscle mass in the lower legs
• High foot arches
• Hammertoes and claw toes
• Scoliosis

The symptoms of CMT4H usually appear in childhood or adolescence and gradually worsen over time. The severity of the symptoms can vary widely, even among individuals with the same genetic mutation.

Diagnosis

Diagnosis of CMT4H involves a combination of clinical evaluation, genetic testing, and nerve conduction studies. Nerve conduction studies measure the speed and strength of the electrical signals that travel through the nerves, which can help to identify nerve damage.

NGS Genetic DNA Test is a highly accurate and reliable method for diagnosing CMT4H. It can identify mutations in the FGD4 gene with a high degree of accuracy, allowing for early and accurate diagnosis of the disease.

Cost

The cost of the FGD4 Gene CMT4H NGS Genetic DNA Test at DNA Labs India is INR 20,000. This is a highly affordable price for a test that can provide early and accurate diagnosis of a rare genetic disorder. The test is performed by highly trained and experienced geneticists using state-of-the-art equipment and technology.

At DNA Labs India, we believe that everyone should have access to the best possible healthcare, regardless of their financial situation. That’s why we offer our services at a highly competitive price, without compromising on quality or accuracy.

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Mutations in the FGD4 gene are associated with a rare genetic disorder known as Charcot-Marie-Tooth disease type 4H (CMT4H), which is a subtype of Charcot-Marie-Tooth (CMT) disease. CMT is a group of inherited peripheral neuropathies characterized by progressive muscle weakness and wasting, primarily affecting the muscles of the lower legs and feet.

CMT4H specifically involves mutations in the FGD4 gene, which encodes a protein involved in the regulation of small GTPase proteins. Mutations in this gene lead to disruptions in cellular processes that are critical for maintaining the health and function of peripheral nerves.