Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLEC gene for Muscular dystrophy, limb-girdle, type 2Q

PreTest Information

Clinical History of Patient who is going for PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLEC Gene Muscular dystrophy, limb-girdle, type 2Q

Detail Description

PLEC Gene Muscular Dystrophy - Limb-Girdle Type 2Q: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Muscular dystrophy is a group of inherited diseases that affect the muscles, causing weakness and wasting. Limb-girdle muscular dystrophy (LGMD) is a type of muscular dystrophy that affects the muscles of the hips and shoulders. There are different types of LGMD, one of which is caused by mutations in the PLEC gene, known as LGMD2Q. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for PLEC gene muscular dystrophy - limb-girdle type 2Q.

Symptoms of PLEC Gene Muscular Dystrophy - Limb-Girdle Type 2Q

The symptoms of LGMD2Q can vary from person to person, but typically start in adolescence or early adulthood. The most common symptoms include:

• Muscle weakness in the hips, thighs, and shoulders
• Difficulty walking, running, or climbing stairs
• Frequent falls
• Waddling gait
• Shoulder and hip muscle wasting
• Difficulty lifting objects
• Contractures (stiff joints) in the elbows, ankles, and neck

As the disease progresses, individuals may experience respiratory and cardiac problems.

Diagnosis of PLEC Gene Muscular Dystrophy - Limb-Girdle Type 2Q

The diagnosis of LGMD2Q is based on clinical symptoms, family history, and genetic testing. A muscle biopsy may also be performed to confirm the diagnosis. Genetic testing is the most reliable way to diagnose LGMD2Q. The test looks for mutations in the PLEC gene, which is responsible for producing a protein called plectin. Mutations in the PLEC gene cause the muscle weakness and wasting seen in LGMD2Q.

NGS Genetic DNA Test Cost for PLEC Gene Muscular Dystrophy - Limb-Girdle Type 2Q

The cost of NGS genetic DNA test for PLEC gene muscular dystrophy - limb-girdle type 2Q in India is INR 20,000. This test is performed using the latest Next-Generation Sequencing (NGS) technology, which allows for the analysis of multiple genes simultaneously. The test is performed on a blood or saliva sample, and results are usually available within 2-3 weeks. Genetic counseling may be recommended before and after the test to help individuals and families understand the implications of the test results.

Conclusion

PLEC gene muscular dystrophy - limb-girdle type 2Q is a rare form of LGMD that is caused by mutations in the PLEC gene. The disease is characterized by muscle weakness and wasting in the hips, thighs, and shoulders, and can lead to respiratory and cardiac problems. Genetic testing is the most reliable way to diagnose LGMD2Q and the NGS genetic DNA test cost for PLEC gene muscular dystrophy - limb-girdle type 2Q in India is INR 20,000. Early diagnosis and management can help improve the quality of life for individuals with LGMD2Q.

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 PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic DNA Test