Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR1 gene for Jackson-Weiss syndrome

PreTest Information

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

Detail Description

FGFR1 Gene Jackson-Weiss syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Jackson-Weiss syndrome is a rare genetic disorder that affects the development of bones in the head and feet. It is caused by mutations in the FGFR1 gene, which provides instructions for making a protein involved in the growth and development of bones. A genetic DNA test can help diagnose this condition and guide appropriate treatment. DNA Labs India offers an NGS Genetic DNA Test for FGFR1 gene mutations at a cost of INR 20000.

Symptoms of Jackson-Weiss Syndrome

Jackson-Weiss syndrome can cause a variety of symptoms, including:

• Abnormal skull shape
• Wide-set eyes
• Underdeveloped midface
• Small jaw
• Abnormalities of the fingers and toes
• Flat feet
• Toes that are fused together

These symptoms can vary in severity and may not be present in all cases of Jackson-Weiss syndrome.

Diagnosing Jackson-Weiss Syndrome

If a doctor suspects that a patient has Jackson-Weiss syndrome, they may order genetic testing to confirm the diagnosis. A genetic DNA test can detect mutations in the FGFR1 gene that are associated with this condition. DNA Labs India offers an NGS Genetic DNA Test for FGFR1 gene mutations at a cost of INR 20000.

Treatment for Jackson-Weiss Syndrome

There is no cure for Jackson-Weiss syndrome, but treatment can help manage the symptoms. This may include:

• Surgery to correct abnormalities in the skull, face, or feet
• Physical therapy to improve mobility and range of motion
• Orthotics to support the feet

Early diagnosis and treatment can help improve outcomes for individuals with Jackson-Weiss syndrome.

Conclusion

Jackson-Weiss syndrome is a rare genetic disorder that affects bone development in the head and feet. Genetic testing can help diagnose this condition and guide appropriate treatment. DNA Labs India offers an NGS Genetic DNA Test for FGFR1 gene mutations at a cost of INR 20000. If you suspect that you or a loved one may have Jackson-Weiss syndrome, talk to your doctor about genetic testing and treatment options.