Short Description

NGS genetic DNA test detecets for variant and mutation detection in FHL1 gene for Emery-Dreifuss muscular dystrophy type 6

PreTest Information

Clinical History of Patient who is going for FHL1 Gene Emery-Dreifuss muscular dystrophy type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FHL1 Gene Emery-Dreifuss muscular dystrophy type 6

Detail Description

FHL1 Gene Emery-Dreifuss Muscular Dystrophy Type 6 NGS Genetic DNA Test

Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder that affects muscle function and causes muscle weakness and wasting. There are several different types of EDMD, each caused by a different genetic mutation. EDMD type 6 is caused by mutations in the FHL1 gene.

The FHL1 gene provides instructions for making a protein called four-and-a-half LIM domain protein 1. This protein plays a role in the development and maintenance of muscle tissue. Mutations in the FHL1 gene can disrupt the function of this protein, leading to muscle weakness and wasting.

Symptoms of EDMD Type 6

The symptoms of EDMD type 6 typically appear in childhood or adolescence, although they can sometimes appear later in life. The severity of symptoms can vary widely between individuals, even within the same family.

Common symptoms of EDMD type 6 include:

• Muscle weakness, particularly in the upper arms, shoulders, and lower legs
• Wasting of muscle tissue
• Contractures (stiff, bent joints)
• Heart problems, including arrhythmia (irregular heartbeat) and heart failure
• Scoliosis (curvature of the spine)

Diagnosis of EDMD Type 6

EDMD type 6 is diagnosed through genetic testing, which can identify mutations in the FHL1 gene. This can be done through a variety of methods, including Next-Generation Sequencing (NGS) genetic DNA testing.

NGS genetic DNA testing is a highly accurate and efficient method of genetic testing. It can identify mutations in multiple genes at once, making it a useful tool for diagnosing genetic disorders like EDMD type 6.

Cost of FHL1 Gene EDMD Type 6 NGS Genetic DNA Test

The cost of FHL1 Gene EDMD Type 6 NGS Genetic DNA Test in India is typically around INR 20,000. However, the cost can vary depending on the specific testing facility and other factors.

Conclusion

EDMD type 6 is a rare genetic disorder that can cause muscle weakness and wasting, contractures, heart problems, and other symptoms. It is caused by mutations in the FHL1 gene, which can be identified through genetic testing like NGS genetic DNA testing. If you or a loved one are experiencing symptoms of EDMD type 6, it is important to consult with a medical professional and consider genetic testing to obtain an accurate diagnosis.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for EDMD type 6. Our team of experienced genetic counselors and scientists can help you understand your test results and provide guidance on next steps. Contact us today to learn more.