Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR1 gene for Trigonocephaly type 1

PreTest Information

Clinical History of Patient who is going for FGFR1 Gene Trigonocephaly type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FGFR1 Gene Trigonocephaly type 1 NGS Genetic DNA Test gene FGFR1

Detail Description

FGFR1 Gene Trigonocephaly Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Trigonocephaly is a rare genetic disorder that affects the shape of the head and face. It is caused by mutations in the FGFR1 gene. This gene provides instructions for making a protein that is important in the development of the skull and face. Mutations in this gene can result in the premature fusion of the bones in the skull, leading to the characteristic triangular shape of the head.

Trigonocephaly type 1 is the most common form of trigonocephaly, accounting for approximately 70% of cases. It is characterized by a triangular-shaped forehead, a high hairline, and a pointed or narrow head. Other symptoms may include developmental delays, intellectual disability, and vision problems.

Diagnosis

Trigonocephaly type 1 is usually diagnosed in infancy or early childhood. A physical examination of the head and face can often confirm the diagnosis. Imaging tests such as X-rays or CT scans may also be used to evaluate the skull and determine the extent of the fusion of the bones.

NGS Genetic DNA Test

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for diagnosing genetic disorders such as trigonocephaly. This type of testing can identify mutations in the FGFR1 gene that are associated with trigonocephaly type 1. NGS testing is highly accurate and can provide results quickly, allowing for earlier diagnosis and treatment.

Cost

The cost of an NGS genetic DNA test for trigonocephaly type 1 in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the extent of the testing required.

Symptoms

The symptoms of trigonocephaly type 1 can vary from person to person, but may include:

• A triangular-shaped forehead
• A high hairline
• A pointed or narrow head
• Developmental delays
• Intellectual disability
• Vision problems

Conclusion

Trigonocephaly type 1 is a rare genetic disorder that affects the shape of the head and face. NGS genetic DNA testing is a powerful tool for diagnosing this disorder, allowing for earlier diagnosis and treatment. The cost of this testing in India is approximately INR 20,000. If you or a loved one are experiencing symptoms of trigonocephaly type 1, speak with your healthcare provider about genetic testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for trigonocephaly type 1. Contact us today to learn more about our services and how we can help you.