Short Description

NGS genetic DNA test detecets for variant and mutation detection in FKTN gene for Limb-girdle muscular dystrophy, autosomal recessive type 2M

PreTest Information

Clinical History of Patient who is going for FKTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2M NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FKTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2M

Detail Description

FKTN Gene Limb-girdle Muscular Dystrophy: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Limb-girdle muscular dystrophy (LGMD) is a group of inherited muscle disorders that cause progressive weakness and wasting of the muscles in the limbs and the trunk. There are many different types of LGMD, each caused by a different genetic mutation. One of these types is autosomal recessive type 2M (LGMD2M), which is caused by mutations in the FKTN gene. In this blog, we will discuss the symptoms, diagnosis, and cost of NGS genetic DNA testing for LGMD2M caused by mutations in the FKTN gene.

Symptoms of LGMD2M

The symptoms of LGMD2M usually appear in childhood or adolescence, although they can develop at any age. The first symptoms are usually weakness and wasting of the muscles in the hips and shoulders, which makes it difficult to walk and lift objects. Over time, the weakness and wasting spread to other muscles in the body, including those in the arms, legs, and trunk. Other symptoms may include:

• Difficulty climbing stairs or getting up from a seated position
• Frequent falls
• Difficulty lifting objects or reaching overhead
• Muscle cramps and stiffness
• Difficulty swallowing and breathing

Diagnosis of LGMD2M

Diagnosing LGMD2M can be challenging because the symptoms are similar to those of other muscle disorders. A diagnosis is usually made based on a combination of clinical symptoms, family history, and genetic testing. To diagnose LGMD2M, a doctor may perform:

• A physical exam to assess muscle strength and function
• Blood tests to rule out other causes of muscle weakness
• An electromyography (EMG) to measure the electrical activity of the muscles
• A muscle biopsy to examine the muscle tissue under a microscope
• Genetic testing to identify mutations in the FKTN gene

NGS Genetic DNA Test Cost for LGMD2M

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for identifying mutations in the FKTN gene that cause LGMD2M. NGS testing can detect multiple genetic mutations simultaneously, making it faster and more efficient than traditional genetic testing methods. The cost of NGS genetic DNA testing for LGMD2M caused by mutations in the FKTN gene is around INR 20,000. This cost may vary depending on the testing facility and the specific tests performed.

Conclusion

LGMD2M is a rare genetic disorder that causes progressive muscle weakness and wasting. It is caused by mutations in the FKTN gene, and diagnosis is usually made through a combination of clinical symptoms and genetic testing. NGS genetic DNA testing is a powerful tool for identifying mutations in the FKTN gene, and the cost of testing is around INR 20,000. If you or a loved one are experiencing symptoms of LGMD2M, it is important to speak to a doctor and undergo genetic testing to receive an accurate diagnosis and appropriate treatment.

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 FKTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2M NGS Genetic DNA Test