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 FH Gene Fumarase deficiency NGS Genetic DNA Test gene FH

Detail Description

FH Gene Fumarase Deficiency NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

DNA Labs India is a leading provider of genetic testing services in the country. They offer a comprehensive range of tests that can help diagnose various genetic disorders, including FH Gene Fumarase Deficiency. This condition is caused by a mutation in the FH gene, which leads to a deficiency in the enzyme fumarase. This deficiency can cause a range of symptoms, and the NGS genetic DNA test offered by DNA Labs India can help diagnose this condition.

Symptoms of FH Gene Fumarase Deficiency

FH Gene Fumarase Deficiency is a rare genetic disorder that affects the body's ability to metabolize fumarate, a compound that is involved in the production of energy. The symptoms of this condition can vary widely, but they may include:

• Developmental delays
• Seizures
• Enlarged liver and spleen
• Low muscle tone
• Brain abnormalities
• Intellectual disability
• Behavioral problems
• Developmental regression

These symptoms can vary in severity and may not be present in all individuals with FH Gene Fumarase Deficiency.

Diagnosis of FH Gene Fumarase Deficiency

The diagnosis of FH Gene Fumarase Deficiency can be challenging, as the symptoms can be similar to those of other conditions. However, the NGS genetic DNA test offered by DNA Labs India can help diagnose this condition. This test uses next-generation sequencing technology to examine the FH gene and identify any mutations that may be present.

The test is simple and painless, and involves taking a small sample of blood or saliva. The sample is then sent to the laboratory for analysis, and the results are usually available within a few weeks.

Cost of the NGS Genetic DNA Test

The cost of the NGS genetic DNA test for FH Gene Fumarase Deficiency is INR 20,000. This may vary depending on the specific test requirements and the location of the testing facility. However, DNA Labs India offers competitive pricing for all of their genetic testing services.

Conclusion

FH Gene Fumarase Deficiency is a rare genetic disorder that can cause a range of symptoms. The NGS genetic DNA test offered by DNA Labs India can help diagnose this condition, allowing for early intervention and treatment. If you or a loved one is experiencing symptoms of FH Gene Fumarase Deficiency, speak to your healthcare provider about the possibility of genetic testing.

For more information about DNA Labs India and their genetic testing services, visit their website today.