Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR2 gene for Apert syndrome

PreTest Information

Clinical History of Patient who is going for FGFR2 Gene Apert syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FGFR2 Gene Apert syndrome NGS Genetic DNA Test gene FGFR2

Detail Description

FGFR2 Gene Apert Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Apert Syndrome is a rare genetic disorder that affects the growth and development of bones in the skull, face, hands, and feet. The condition is caused by mutations in the FGFR2 gene, which provides instructions for making a protein that is involved in the development and maintenance of bones and other tissues.

Symptoms of Apert Syndrome

The symptoms of Apert Syndrome can vary greatly from person to person, but some common signs and symptoms include:

• Fused skull bones
• Bulging and wide-set eyes
• Beaked nose
• Underdeveloped jaw
• Webbed fingers and toes
• Delayed development

Diagnosis of Apert Syndrome

The diagnosis of Apert Syndrome is typically made based on clinical features and genetic testing. A physical examination may reveal the characteristic skull and facial abnormalities, as well as the webbed fingers and toes. Genetic testing can confirm the presence of mutations in the FGFR2 gene.

FGFR2 Gene Apert Syndrome NGS Genetic DNA Test

NGS (Next-Generation Sequencing) Genetic DNA Test is a highly accurate and reliable method of identifying mutations in the FGFR2 gene. The test is performed using a small sample of blood or saliva, which is analyzed using advanced sequencing technology. The test can detect both known and unknown mutations in the FGFR2 gene, allowing for a more comprehensive diagnosis of Apert Syndrome.

Cost of FGFR2 Gene Apert Syndrome NGS Genetic DNA Test

The cost of FGFR2 Gene Apert Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the laboratory and location where the test is performed.

Conclusion

Apert Syndrome is a rare genetic disorder that can have significant effects on a person's health and development. Genetic testing, such as the FGFR2 Gene Apert Syndrome NGS Genetic DNA Test, can provide a more accurate diagnosis and help guide treatment and management of the condition. While the cost of the test may vary, it is an important investment in the health and wellbeing of individuals with Apert Syndrome.

At DNA Labs India, we offer a wide range of genetic testing services, including the FGFR2 Gene Apert Syndrome NGS Genetic DNA Test. Contact us today to learn more about our services and how we can help you.