Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMT2 gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

PreTest Information

Clinical History of Patient who is going for POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Detail Description

POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic DNA Test

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 is a rare genetic disorder that affects muscle function, brain development, and eye abnormalities. It is caused by mutations in the POMT2 gene, which provides instructions for making an enzyme that is important for the formation of a protein called alpha-dystroglycan. Alpha-dystroglycan helps to anchor muscle cells to the surrounding tissue and is also important for the development and maintenance of the brain and eyes.

Symptoms of POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 can vary widely, but often include muscle weakness, developmental delays, intellectual disability, and vision problems. Diagnosis can be made through genetic testing, which can identify mutations in the POMT2 gene.

NGS Genetic DNA testing is a powerful tool for identifying genetic mutations that can cause rare disorders like POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2. It uses next-generation sequencing technology to analyze a patient's DNA and identify mutations that may be responsible for their symptoms.

DNA Labs India offers NGS Genetic DNA testing for POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 at a cost of INR 20,000. This test can help to provide a definitive diagnosis for patients with this rare disorder, allowing for more targeted treatment and management of symptoms.

If you or a loved one are experiencing symptoms of POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, talk to your doctor about genetic testing options. Early diagnosis and treatment can help to improve outcomes and quality of life for patients with this rare disorder.

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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 POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic DNA Test