Short Description

NGS genetic DNA test detecets for variant and mutation detection in EXT2 gene for Seizures, scoliosis, and macrocephaly syndrome

PreTest Information

Clinical History of Patient who is going for EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic DNA Test gene EXT2

Detail Description

EXT2 Gene Seizures, Scoliosis, and Macrocephaly Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

EXT2 gene seizures, scoliosis, and macrocephaly syndrome are genetic conditions that affect the nervous system, bones, and head size. The EXT2 gene provides instructions for making an enzyme that is involved in the production of heparan sulfate, a molecule that is important for the development and maintenance of bones and other tissues in the body.

People with EXT2 gene mutations may have seizures that begin in infancy or early childhood, scoliosis (a sideways curvature of the spine), and macrocephaly (an abnormally large head size). Other features of this condition may include developmental delay, intellectual disability, and distinctive facial features.

If you or your child are experiencing these symptoms, it is important to speak with a genetic counselor or healthcare provider to determine if genetic testing is appropriate. DNA Labs India offers an NGS (Next Generation Sequencing) Genetic DNA Test that can detect mutations in the EXT2 gene, allowing for an accurate diagnosis of this condition.

NGS Genetic DNA Test Cost INR:20000

The cost of the EXT2 gene NGS Genetic DNA Test at DNA Labs India is INR 20000. This test uses cutting-edge technology to sequence the entire coding region of the EXT2 gene, allowing for the detection of a wide range of mutations.

Results from this test can help healthcare providers determine the most appropriate treatment and management plan for individuals with EXT2 gene mutations.

Symptoms of EXT2 Gene Seizures, Scoliosis, and Macrocephaly Syndrome

• Seizures that begin in infancy or early childhood
• Scoliosis (a sideways curvature of the spine)
• Macrocephaly (an abnormally large head size)
• Developmental delay
• Intellectual disability
• Distinctive facial features

Diagnosis of EXT2 Gene Seizures, Scoliosis, and Macrocephaly Syndrome

Diagnosis of EXT2 gene seizures, scoliosis, and macrocephaly syndrome typically involves a combination of physical exams, medical history, and genetic testing. DNA Labs India offers an NGS Genetic DNA Test that can detect mutations in the EXT2 gene, allowing for an accurate diagnosis of this condition.

If you or your child are experiencing symptoms of EXT2 gene seizures, scoliosis, and macrocephaly syndrome, speak with your healthcare provider about genetic testing options.