Short Description

NGS genetic DNA test detecets for variant and mutation detection in PABPN1 gene for Muscular dystrophy, oculopharyngeal

PreTest Information

Clinical History of Patient who is going for PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PABPN1 Gene Muscular dystrophy, oculopharyngeal

Detail Description

PABPN1 Gene Muscular Dystrophy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost at DNA Labs India

Muscular dystrophy (MD) is a group of genetic disorders that cause progressive muscle weakness and wasting. One of the rare forms of MD is oculopharyngeal muscular dystrophy (OPMD) caused by mutations in the PABPN1 gene. OPMD affects the muscles in the eyes, throat, and sometimes other parts of the body.

Symptoms of OPMD

The symptoms of OPMD usually start in adulthood, between the ages of 40 and 60. Some of the common symptoms include:

• Difficulty swallowing (dysphagia)
• Drooping eyelids (ptosis)
• Double vision (diplopia)
• Weakness in the muscles of the face, neck, and shoulders
• Difficulty speaking (dysarthria)

These symptoms can vary in severity and progression from person to person. OPMD is a progressive disorder, meaning that the symptoms worsen over time.

Diagnosis of OPMD

OPMD is diagnosed through genetic testing. A blood or saliva sample is taken and analyzed to look for mutations in the PABPN1 gene. A positive result confirms the diagnosis of OPMD.

NGS Genetic DNA Test Cost at DNA Labs India

DNA Labs India offers Next-Generation Sequencing (NGS) genetic DNA testing for OPMD caused by mutations in the PABPN1 gene. The cost of the test is INR 20,000.

NGS is a powerful technology that can analyze multiple genes at once, providing a comprehensive picture of an individual's genetic makeup. It is faster and more cost-effective than traditional genetic testing methods.

Conclusion

If you or a loved one are experiencing symptoms of OPMD, it is important to seek medical attention and consider genetic testing. DNA Labs India offers NGS genetic DNA testing for OPMD caused by mutations in the PABPN1 gene at an affordable cost. Early diagnosis and management can improve the quality of life for individuals with OPMD.

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 PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic DNA Test