Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLNC gene for Filaminopathy

PreTest Information

Clinical History of Patient who is going for FLNC Gene Filaminopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FLNC Gene Filaminopathy

Detail Description

FLNC Gene Filaminopathy NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

FLNC gene filaminopathy is a rare genetic disorder that affects the skeletal and cardiac muscles. It is caused by mutations in the FLNC gene, which provides instructions for making a protein called filamin C. This protein helps to maintain the structure of muscle cells and is essential for their proper function.

Symptoms

The symptoms of FLNC gene filaminopathy can vary greatly from person to person. Some people may have only mild muscle weakness, while others may experience severe muscle wasting and heart problems. Common symptoms include:

• Muscle weakness and wasting
• Difficulty walking and standing
• Heart problems, such as arrhythmias or cardiomyopathy
• Breathing difficulties
• Scoliosis

Diagnosis

Diagnosis of FLNC gene filaminopathy typically involves a combination of physical examination, family history, and genetic testing. A doctor may perform a muscle biopsy to examine the muscle tissue for abnormalities or conduct an electrocardiogram (ECG) to check for heart problems.

A genetic test is necessary to confirm a diagnosis of FLNC gene filaminopathy. Next-generation sequencing (NGS) is the most common type of genetic test used to identify mutations in the FLNC gene. This test analyzes the DNA sequence of the gene to detect any changes or mutations that may be causing the disorder.

Cost of NGS Genetic DNA Test

The cost of an NGS genetic DNA test for FLNC gene filaminopathy in India is approximately INR 20,000. The actual cost may vary depending on the laboratory and location where the test is performed.

Conclusion

FLNC gene filaminopathy is a rare genetic disorder that can have a significant impact on a person's quality of life. Early diagnosis and treatment are essential for managing the symptoms and preventing complications. Genetic testing, such as NGS, is a crucial tool in the diagnosis of this disorder and can provide important information for family planning and genetic counseling.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS genetic DNA testing for FLNC gene filaminopathy. Our team of highly qualified geneticists and technicians uses state-of-the-art technology to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.

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 FLNC Gene Filaminopathy NGS Genetic DNA Test