Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP63 gene for Microcephaly, CEP63 related

PreTest Information

Clinical History of Patient who is going for CEP63 Gene Microcephaly, CEP63 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP63 Gene Microcephaly, CEP63 related NGS Genetic DNA Test gene CEP63

Detail Description

CEP63 Gene and Microcephaly: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Microcephaly is a rare neurological condition that affects infants and young children, characterized by a smaller than average head size and reduced brain function. The condition is usually caused by genetic factors, including mutations in the CEP63 gene.

What is the CEP63 gene?

The CEP63 gene provides instructions for making a protein that is involved in the formation of centrosomes, which are structures that help to organize the cell during division. Centrosomes are essential for the proper division of cells, including the cells that form the brain. Mutations in the CEP63 gene can disrupt the formation of centrosomes, leading to abnormal brain development and microcephaly.

Symptoms of CEP63-related Microcephaly

Infants born with CEP63-related microcephaly typically have a head circumference that is significantly smaller than normal. Other symptoms may include:

• Delayed development
• Intellectual disability
• Seizures
• Hearing and vision problems

Diagnosis of CEP63-related Microcephaly

Diagnosis of CEP63-related microcephaly may involve a physical examination and imaging tests, such as an MRI or CT scan. Genetic testing may also be recommended to confirm the presence of a CEP63 gene mutation. This may involve targeted gene sequencing or next-generation sequencing (NGS) technology.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for CEP63-related microcephaly in India typically ranges from INR 20,000 to INR 30,000, depending on the laboratory and the specific tests performed. Some labs may also offer targeted gene sequencing, which may be less expensive than NGS testing.

Conclusion

CEP63-related microcephaly is a rare genetic condition that can have significant developmental and cognitive effects on infants and children. Early diagnosis through genetic testing can help to ensure that affected individuals receive appropriate medical care and support. While the cost of NGS genetic testing in India may vary, it is an important investment in the health and well-being of affected individuals and their families.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for CEP63-related microcephaly. Our experienced team of genetic counselors and technicians can help you understand your test results and provide guidance on next steps. Contact us today to learn more.