Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMT1 gene for Limb-girdle muscular dystrophy, autosomal recessive type 2K

PreTest Information

Clinical History of Patient who is going for POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K

Detail Description

POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K NGS Genetic DNA Test

At DNA Labs India, we offer a comprehensive NGS Genetic DNA Test to diagnose POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K. This condition is a rare genetic disorder that affects the muscles of the arms and legs, causing weakness and wasting over time.

Symptoms of POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K

The symptoms of POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K can vary widely, but may include:

• Weakness in the muscles of the arms and legs
• Difficulty with walking, running, and other physical activities
• Muscle cramps and stiffness
• Pain and discomfort in the muscles
• Loss of muscle mass

These symptoms can appear at any time, from childhood to adulthood, and may progress slowly over time.

Diagnosis of POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K

Diagnosing POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K can be challenging, as the symptoms can be similar to other types of muscular dystrophy. However, our NGS Genetic DNA Test can provide a definitive diagnosis.

This test analyzes the patient's DNA to look for mutations in the POMT1 gene, which is responsible for producing a protein that helps to maintain the structure of muscle fibers. If mutations are found, the patient is diagnosed with POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K.

Cost of POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K NGS Genetic DNA Test

The cost of our NGS Genetic DNA Test for POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K is INR 20,000.

This test is performed in our state-of-the-art laboratory using the latest technology and equipment, and is conducted by our team of highly skilled and experienced geneticists.

Conclusion

If you or a loved one are experiencing symptoms of POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K, our NGS Genetic DNA Test can provide a definitive diagnosis. This can help to guide treatment and management options, and provide peace of mind for patients and their families.

Contact DNA Labs India today to learn more about our NGS Genetic DNA Test for POMT1 Gene Limb-Girdle Muscular Dystrophy, Autosomal Recessive Type 2K.

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 POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K NGS Genetic DNA Test