Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR1 gene for Hartsfield syndrome

PreTest Information

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

Detail Description

FGFR1 Gene and Hartsfield Syndrome: Symptoms, Diagnosis, and DNA Test Cost in India

FGFR1 gene mutations have been linked to a rare genetic disorder known as Hartsfield syndrome. This syndrome is characterized by a combination of symptoms including craniofacial abnormalities, hearing loss, cleft palate, intellectual disability, and other developmental delays. In this blog, we will discuss the symptoms, diagnosis, and DNA test cost for Hartsfield syndrome in India.

Symptoms of Hartsfield Syndrome

The symptoms of Hartsfield syndrome can vary widely, but some of the most common include:

• Craniofacial abnormalities such as a small head size (microcephaly), bulging eyes (exophthalmos), and a high forehead
• Hearing loss
• Cleft palate or other abnormalities of the mouth and throat
• Intellectual disability
• Developmental delays in motor skills and language
• Abnormalities of the hands and feet, such as extra fingers or toes (polydactyly)

These symptoms may not be present at birth and may become more apparent as the child grows and develops.

Diagnosis of Hartsfield Syndrome

Diagnosing Hartsfield syndrome can be challenging as it is a rare disorder and its symptoms can vary widely. A clinical geneticist or a genetic counselor may perform a physical exam and take a detailed medical history to identify any craniofacial abnormalities, hearing loss, or developmental delays. Genetic testing may also be recommended to confirm the diagnosis.

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes at once to identify mutations. NGS can be used to test for mutations in the FGFR1 gene, which is associated with Hartsfield syndrome.

DNA Test Cost for Hartsfield Syndrome in India

The DNA test cost for Hartsfield syndrome in India can vary depending on the laboratory and the specific tests performed. However, on average, the cost of an NGS genetic DNA test for Hartsfield syndrome in India is around INR 20,000.

It is important to note that DNA testing is not always covered by insurance, so patients should check with their insurance provider before undergoing testing. Additionally, genetic counseling may be recommended before and after testing to ensure that patients fully understand the testing process and its implications.

Conclusion

Hartsfield syndrome is a rare genetic disorder that can cause a range of symptoms including craniofacial abnormalities, hearing loss, and intellectual disability. Diagnosing Hartsfield syndrome can be challenging, but genetic testing such as NGS can help identify mutations in the FGFR1 gene. The DNA test cost for Hartsfield syndrome in India is around INR 20,000, but patients should check with their insurance provider before undergoing testing.

At DNA Labs India, we offer a range of genetic testing services including NGS for Hartsfield syndrome. Our team of experts is committed to providing accurate and timely results to help patients and their families make informed decisions about their health. Contact us today to learn more about our services.