Short Description

NGS genetic DNA test detecets for variant and mutation detection in GFER gene for Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay

PreTest Information

Clinical History of Patient who is going for GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay

Detail Description

GFER Gene Myopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

GFER Gene Myopathy is a rare genetic disorder that affects the mitochondria, which are responsible for producing energy in the body. It is caused by mutations in the GFER gene, which provides instructions for making a protein that is involved in the formation of new mitochondria. This disorder is characterized by progressive muscle weakness and wasting, congenital cataract, hearing loss, and developmental delay.

Symptoms

The symptoms of GFER Gene Myopathy may vary from person to person, but the most common ones include:

• Progressive muscle weakness and wasting
• Congenital cataract
• Hearing loss
• Developmental delay
• Difficulty with coordination and balance
• Respiratory problems
• Heart problems

Some people with GFER Gene Myopathy may also experience seizures, intellectual disability, and vision problems.

Diagnosis

GFER Gene Myopathy can be diagnosed through genetic testing. Next-Generation Sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it an efficient and cost-effective way to diagnose rare genetic disorders like GFER Gene Myopathy. This test can detect mutations in the GFER gene that are associated with this disorder.

In addition to genetic testing, doctors may also perform a physical exam and medical history review to rule out other conditions that may cause similar symptoms.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA Test for GFER Gene Myopathy in India is around INR 20,000. This cost may vary depending on the laboratory and location where the test is performed. Some insurance companies may cover the cost of genetic testing, so it is important to check with your provider to see if this test is covered.

Conclusion

GFER Gene Myopathy is a rare genetic disorder that can cause progressive muscle weakness and wasting, congenital cataract, hearing loss, and developmental delay. Genetic testing, specifically NGS, can diagnose this disorder and help provide personalized treatment options. If you or a loved one is experiencing symptoms of GFER Gene Myopathy, it is important to speak with a healthcare provider to determine the best course of action.

At DNA Labs India, we offer NGS Genetic DNA Testing for GFER Gene Myopathy and other rare genetic disorders. Contact us today to learn more about our services.

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 GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic DNA Test