Short Description

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

PreTest Information

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

Detail Description

FGFR1 Gene Pfeiffer Syndrome NGS Genetic DNA Test

Pfeiffer Syndrome is a rare genetic disorder that affects the growth of bones in the skull and other parts of the body. It is caused by mutations in the FGFR1 gene, which provides instructions for making a protein that is involved in the development and maintenance of bones and other tissues in the body.

The symptoms of Pfeiffer Syndrome can vary widely, but typically include:

• Abnormal head shape
• Protruding eyes
• Underdeveloped midface
• Cleft palate
• Fused fingers and/or toes

Diagnosis of Pfeiffer Syndrome typically involves a physical examination, medical history review, and genetic testing. Testing for mutations in the FGFR1 gene can confirm the diagnosis and help determine the severity of the condition.

DNA Labs India offers an NGS Genetic DNA test for the FGFR1 gene at a cost of INR 20000. This test uses next-generation sequencing technology to analyze the DNA sequence of the gene and identify any mutations or variants that may be present.

Early diagnosis and treatment of Pfeiffer Syndrome is important for managing symptoms and preventing complications. If you or a loved one are experiencing symptoms of Pfeiffer Syndrome, speak with a healthcare provider about genetic testing and treatment options.