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Accurate Test Results for POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic DNA Test
POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic DNA Test Cost 20000 Rs
POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic DNA Test Details
POMT1 Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 2N NGS Genetic DNA Test
Muscular dystrophy is a group of inherited genetic disorders that cause muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of muscular dystrophy that primarily affects the muscles around the hips and shoulders. Autosomal recessive LGMD type 2N is caused by mutations in the POMT1 gene.
Symptoms of LGMD Autosomal Recessive Type 2N
The symptoms of LGMD autosomal recessive type 2N usually appear during childhood or adolescence. The initial symptoms may include difficulty in walking, running, and climbing stairs. As the disease progresses, muscle weakness and wasting spread to other parts of the body, including the arms, legs, and trunk. Patients may also experience joint stiffness, contractures, and respiratory problems.
Diagnosis of LGMD Autosomal Recessive Type 2N
The diagnosis of LGMD autosomal recessive type 2N involves a combination of clinical examination, genetic testing, and muscle biopsy. The physician may perform a physical examination to assess muscle strength, tone, and reflexes. Genetic testing can identify mutations in the POMT1 gene that cause the disease. A muscle biopsy involves removing a small sample of muscle tissue and examining it under a microscope to detect any abnormalities.
NGS Genetic DNA Test for LGMD Autosomal Recessive Type 2N
Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for identifying mutations in the POMT1 gene that cause LGMD autosomal recessive type 2N. This test involves sequencing the entire DNA sequence of the POMT1 gene to identify any mutations that may be present. NGS genetic DNA testing is a highly accurate and sensitive method for detecting genetic mutations, and it can provide a definitive diagnosis for patients with LGMD autosomal recessive type 2N.
Cost of NGS Genetic DNA Test for LGMD Autosomal Recessive Type 2N in India
The cost of NGS genetic DNA testing for LGMD autosomal recessive type 2N in India is approximately INR 20,000. This cost may vary depending on the specific laboratory that performs the test and any additional services that may be required. Patients should consult with their physician or genetic counselor to determine the most appropriate testing options and costs for their individual needs.
Conclusion
LGMD autosomal recessive type 2N is a rare genetic disorder that can cause significant muscle weakness and degeneration. NGS genetic DNA testing is a powerful tool for identifying mutations in the POMT1 gene that cause the disease, and it can provide a definitive diagnosis for patients. The cost of NGS genetic DNA testing for LGMD autosomal recessive type 2N in India is approximately INR 20,000. Patients should consult with their physician or genetic counselor to determine the most appropriate testing options and costs for their individual needs.
DNA Labs India provides NGS genetic DNA testing for LGMD autosomal recessive type 2N and other genetic disorders. Contact us today to learn more about our testing services and how we can help you achieve a definitive diagnosis.
