Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR2 gene for Beare-Stevenson cutis gyrata syndrome

PreTest Information

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

Detail Description

FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome NGS Genetic DNA Test

Beare-Stevenson Cutis Gyrata Syndrome is a rare genetic disorder caused by mutations in the FGFR2 gene. This syndrome affects the skin and bones, causing the skin to fold and thicken, and leading to abnormal bone growth. It is estimated that the prevalence of this syndrome is 1 in 500,000.

Symptoms of Beare-Stevenson Cutis Gyrata Syndrome

The symptoms of Beare-Stevenson Cutis Gyrata Syndrome vary from person to person. Some of the common symptoms include:

• Thickened skin on the scalp
• Deep grooves on the forehead and scalp
• Abnormal bone growth in the skull
• Widely spaced eyes
• Malformed ears
• Cleft lip and/or palate
• Abnormalities in the fingers and toes

These symptoms may be present at birth or may develop over time.

Diagnosis of Beare-Stevenson Cutis Gyrata Syndrome

A diagnosis of Beare-Stevenson Cutis Gyrata Syndrome is usually made based on the physical symptoms and medical history of the patient. Genetic testing may be done to confirm the diagnosis. DNA Labs India offers NGS Genetic DNA Test for the FGFR2 gene mutation that causes Beare-Stevenson Cutis Gyrata Syndrome.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for the FGFR2 gene mutation that causes Beare-Stevenson Cutis Gyrata Syndrome is INR 20,000.

Conclusion

Beare-Stevenson Cutis Gyrata Syndrome is a rare genetic disorder that can cause significant physical abnormalities. Early diagnosis is important for effective management of the condition. DNA Labs India offers NGS Genetic DNA Test for the FGFR2 gene mutation that causes Beare-Stevenson Cutis Gyrata Syndrome at an affordable cost of INR 20,000.

If you suspect that you or a loved one may have Beare-Stevenson Cutis Gyrata Syndrome, contact DNA Labs India to learn more about our genetic testing services.