Short Description

NGS genetic DNA test detecets for variant and mutation detection in FH gene for Fumarase deficiency

PreTest Information

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

Detail Description

FH Gene Fumarase Deficiency NGS Genetic DNA Test – Diagnosis, Symptoms, and Cost in India

Genetic disorders are becoming increasingly common in India and across the world. With advancements in DNA testing technology, it is now possible to diagnose genetic disorders accurately and at an affordable cost. One such genetic disorder is FH Gene Fumarase Deficiency. In this blog, we will discuss the symptoms, diagnosis, and cost of the FH Gene Fumarase Deficiency NGS Genetic DNA test in India.

What is FH Gene Fumarase Deficiency?

FH Gene Fumarase Deficiency is a rare genetic disorder that affects the metabolism of the body. It is caused by a mutation in the FH gene that leads to a deficiency of the fumarase enzyme. This enzyme plays a crucial role in the Krebs cycle, which is responsible for generating energy in the body.

Symptoms of FH Gene Fumarase Deficiency

The symptoms of FH Gene Fumarase Deficiency can vary from person to person. Some common symptoms include:

• Developmental delay
• Intellectual disability
• Seizures
• Enlarged liver and spleen
• Low muscle tone
• Jaundice
• Abnormal movements
• Respiratory problems

The severity of the symptoms can depend on the degree of enzyme deficiency.

Diagnosis of FH Gene Fumarase Deficiency

The diagnosis of FH Gene Fumarase Deficiency can be made through genetic testing. The most common genetic testing method used for this disorder is Next-Generation Sequencing (NGS).

NGS is a high-throughput DNA sequencing technology that allows for the rapid and accurate sequencing of large segments of DNA. It can detect mutations in the FH gene that cause Fumarase Deficiency.

Cost of FH Gene Fumarase Deficiency NGS Genetic DNA Test in India

The cost of the FH Gene Fumarase Deficiency NGS Genetic DNA test in India can vary depending on the laboratory and the location. On average, the cost of the test can range from INR 15,000 to INR 25,000.

Conclusion

FH Gene Fumarase Deficiency is a rare genetic disorder that can have severe consequences if left undiagnosed and untreated. Genetic testing, specifically NGS, can accurately diagnose this disorder and help patients receive appropriate treatment and care. The cost of the FH Gene Fumarase Deficiency NGS Genetic DNA test in India is affordable and accessible, making it possible for patients to receive a timely diagnosis.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.