FLVCR2 gene hydranencephaly, Fowler type is a rare genetic disorder that affects the brain and skull. It is caused by mutations in the FLVCR2 gene, which provides instructions for making a protein that transports heme, a component of hemoglobin, out of cells. This disorder is characterized by the absence of cerebral hemispheres, which are replaced by sacs filled with cerebrospinal fluid. Symptoms of hydranencephaly Fowler type usually appear at birth or in early infancy and include:

• Seizures
• Decreased muscle tone
• Impaired vision and hearing
• Developmental delays
• Intellectual disability

Diagnosis of FLVCR2 gene hydranencephaly, Fowler type is done through a genetic DNA test known as Next-Generation Sequencing (NGS). This test analyzes the DNA sequence of the FLVCR2 gene to identify any mutations that may be causing the disorder. The cost of this test at DNA Labs India is INR:20000.

If you suspect that your child may be affected by hydranencephaly Fowler type, it is important to consult a genetic counselor or a healthcare professional. They can help you understand the symptoms, risk factors, and treatment options available for this disorder.