Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMGNT2 gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8

PreTest Information

Clinical History of Patient who is going for POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8

Detail Description

POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and loss of muscle mass. One such type of muscular dystrophy is POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8. It is caused by mutations in the POMGNT2 gene and is inherited in an autosomal recessive pattern.

Symptoms

The symptoms of POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 can vary widely among affected individuals. However, some common symptoms are:

• Muscle weakness and wasting
• Delayed motor development
• Brain and eye abnormalities
• Intellectual disability
• Seizures
• Respiratory problems

Diagnosis

POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 can be diagnosed through a genetic test. Next-generation sequencing (NGS) technology can identify mutations in the POMGNT2 gene.

The diagnosis is usually confirmed through a combination of clinical features, muscle biopsy, and genetic testing.

NGS Genetic DNA Test cost

The cost of NGS Genetic DNA Test for POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 in India is approximately INR 20,000.

Conclusion

POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 is a rare genetic disorder that affects muscle, brain, and eye development. Early diagnosis through genetic testing can help in better management and treatment of the disease.

DNA Labs India offers NGS Genetic DNA Test for POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 at an affordable cost. Contact us today to schedule an appointment.

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 POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic DNA Test