Short Description

NGS genetic DNA test detecets for variant and mutation detection in FIG4 gene for CMT4J

PreTest Information

Clinical History of Patient who is going for FIG4 Gene CMT4J NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FIG4 Gene CMT4J

Detail Description

FIG4 Gene CMT4J NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers the FIG4 Gene CMT4J NGS Genetic DNA Test at a cost of INR 20000. This test is designed to identify mutations in the FIG4 gene that can cause Charcot-Marie-Tooth disease type 4J (CMT4J).

What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease (CMT) is a genetic disorder that affects the peripheral nervous system. It is named after the three physicians who first described the condition in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is characterized by muscle weakness and wasting, particularly in the feet, legs, hands, and forearms. This can lead to difficulty walking, loss of dexterity, and other problems.

What is CMT4J?

CMT4J is a subtype of Charcot-Marie-Tooth disease that is caused by mutations in the FIG4 gene. This gene provides instructions for making a protein that helps to regulate the levels of certain lipids (fatty substances) in cells.

When the FIG4 gene is mutated, the levels of these lipids can become unbalanced, which can lead to damage to the nerves that control muscle movement. This damage can cause the symptoms of CMT4J.

What are the symptoms of CMT4J?

The symptoms of CMT4J can vary, but they typically include:

• Muscle weakness and wasting, particularly in the feet, legs, hands, and forearms
• Difficulty walking or running
• Loss of dexterity
• Numbness or tingling in the hands and feet
• Pain or cramping in the legs or feet

These symptoms usually begin in childhood or adolescence, but they can also appear later in life.

How is CMT4J diagnosed?

CMT4J is diagnosed through a combination of clinical evaluation, genetic testing, and nerve conduction studies. The FIG4 Gene CMT4J NGS Genetic DNA Test offered by DNA Labs India can identify mutations in the FIG4 gene that are associated with CMT4J.

What is the cost of the FIG4 Gene CMT4J NGS Genetic DNA Test?

The cost of the FIG4 Gene CMT4J NGS Genetic DNA Test at DNA Labs India is INR 20000.

Conclusion

CMT4J is a rare subtype of Charcot-Marie-Tooth disease that is caused by mutations in the FIG4 gene. The FIG4 Gene CMT4J NGS Genetic DNA Test offered by DNA Labs India can identify these mutations and help to diagnose the condition. If you or someone you know is experiencing symptoms of CMT4J, talk to your doctor about whether genetic testing may be appropriate.

Remember, early diagnosis and treatment can help to improve outcomes for people with CMT4J.

For more information on genetic testing and CMT4J, contact DNA Labs India today.