What is Opitz-Kaveggia Syndrome?

Opitz-Kaveggia syndrome, also known as FG syndrome, is a rare genetic disorder that affects development and is caused by mutations in the MED12 gene. It primarily affects males, although females can also be affected. Symptoms can vary but often include intellectual disability, delayed speech and language development, low muscle tone, and distinctive facial features.

Symptoms of Opitz-Kaveggia Syndrome

• Intellectual disability
• Delayed speech and language development
• Low muscle tone (hypotonia)
• Distinctive facial features, including a prominent forehead, widely spaced eyes, and a small nose and jaw
• Vision and hearing problems
• Seizures
• Behavioral problems, such as hyperactivity and aggression

Diagnosis of Opitz-Kaveggia Syndrome

Diagnosis of Opitz-Kaveggia syndrome is typically based on clinical evaluation and genetic testing. A physical exam and medical history can help identify characteristic symptoms, such as distinctive facial features and developmental delays. Genetic testing, such as NGS (next-generation sequencing) genetic DNA testing, can confirm the diagnosis by identifying mutations in the MED12 gene.

NGS Genetic DNA Test Cost at DNA Labs India

At DNA Labs India, the cost of NGS genetic DNA testing for Opitz-Kaveggia syndrome is INR 20,000. This test is performed using the latest next-generation sequencing technology to identify mutations in the MED12 gene, which can confirm a diagnosis of Opitz-Kaveggia syndrome. Our laboratory is accredited by NABL and provides reliable, accurate results.