Short Description

NGS genetic DNA test detecets for variant and mutation detection in FKRP gene for Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related

PreTest Information

Clinical History of Patient who is going for FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related

Detail Description

Understanding FKRP Gene and Walker-Warburg Syndrome

FKRP Gene is a gene that is responsible for the production of a protein that plays a vital role in the development and maintenance of muscle tissue. Mutations in this gene can lead to various genetic disorders, including Walker-Warburg syndrome, also known as muscle-eye-brain disease.

Walker-Warburg syndrome is a rare genetic disorder that affects multiple systems in the body, including the muscles, eyes, and brain. It is caused by mutations in the FKRP gene, which leads to the abnormal development of these systems during fetal development.

Symptoms of Walker-Warburg Syndrome

The symptoms of Walker-Warburg syndrome can vary depending on the severity of the mutations in the FKRP gene. Some of the common symptoms of this disorder include:

• Developmental delays
• Seizures
• Abnormal eye movements and vision problems
• Progressive muscle weakness and wasting
• Brain malformations
• Respiratory problems
• Enlarged liver and spleen

Diagnosis of Walker-Warburg Syndrome

Diagnosis of Walker-Warburg syndrome can be done through a combination of physical examinations, imaging tests, and genetic testing. Imaging tests such as magnetic resonance imaging (MRI) and computed tomography (CT) scan can help identify brain malformations and other abnormalities. Genetic testing, specifically next-generation sequencing (NGS) genetic DNA testing, is used to identify mutations in the FKRP gene.

Cost of FKRP Related NGS Genetic DNA Test

The cost of FKRP related NGS genetic DNA test in India is around INR 20,000. This test is conducted by DNA Labs India, a leading genetic testing laboratory in India that provides accurate and reliable genetic testing services.

Conclusion

Walker-Warburg syndrome is a rare genetic disorder that can have severe consequences on the affected individual's quality of life. Early diagnosis through genetic testing can help in providing proper treatment and support to the affected individuals. DNA Labs India provides accurate and reliable genetic testing services, including FKRP related NGS genetic DNA testing, at an affordable cost.

If you suspect that you or your loved one may have Walker-Warburg syndrome, it is recommended that you consult a healthcare professional and consider getting genetic testing done to confirm the diagnosis.

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 FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic DNA Test