Short Description

NGS genetic DNA test detecets for variant and mutation detection in RXYLT1 gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10

PreTest Information

Clinical History of Patient who is going for RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10

Detail Description

DNA Labs India: RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A10 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 is a rare genetic disorder that affects the muscles, brain, and eyes. It is caused by mutations in the RXYLT1 gene, which provides instructions for making a protein that is important for the development and maintenance of muscle and brain tissue.

Symptoms of RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A10

The symptoms of RXYLT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 can vary widely from person to person, but some common symptoms include:

• Weakness in the muscles of the arms, legs, and trunk
• Poor muscle tone
• Difficulty walking and standing
• Developmental delay
• Intellectual disability
• Seizures
• Abnormal eye movements
• Visual impairment or blindness
• Abnormal brain structure
• Delayed language development

Diagnosis of RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A10

The diagnosis of RXYLT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 is usually made based on a combination of clinical symptoms, family history, and genetic testing. A muscle biopsy may also be performed to confirm the diagnosis.

NGS Genetic DNA Test for RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A10

The NGS genetic DNA test for RXYLT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 is a comprehensive genetic test that can identify mutations in the RXYLT1 gene. This test is performed using next-generation sequencing (NGS) technology, which allows for the analysis of multiple genes at once. The cost of this test at DNA Labs India is INR 20,000.

Conclusion

RXYLT1 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 is a rare genetic disorder that can cause significant disability. Early diagnosis through genetic testing can help to ensure that affected individuals receive appropriate care and support. If you or someone you know is experiencing symptoms of this disorder, speak to a healthcare professional about genetic testing options.

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 RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 NGS Genetic DNA Test