Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP63 gene for Seckel syndrome type 6

PreTest Information

Clinical History of Patient who is going for CEP63 Gene Seckel syndrome type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP63 Gene Seckel syndrome type 6 NGS Genetic DNA Test gene CEP63

Detail Description

CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test

CEP63 gene is responsible for the production of a protein that helps in the normal growth and development of the body. However, mutations in this gene can lead to Seckel Syndrome type 6, a rare genetic disorder that affects the growth and development of an individual.

Symptoms of Seckel Syndrome type 6

The symptoms of Seckel Syndrome type 6 include:

• Small head size (microcephaly)
• Small stature
• Intellectual disability
• Delayed development
• Abnormal facial features, such as a small jaw and a beaked nose
• Eye abnormalities, such as cataracts and glaucoma

Diagnosis of Seckel Syndrome type 6

Seckel Syndrome type 6 can be diagnosed through genetic testing. The CEP63 gene can be analyzed through Next Generation Sequencing (NGS) to identify any mutations. This test can help in confirming the diagnosis of Seckel Syndrome type 6 in an individual.

Cost of CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test

The cost of the CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test in India is INR 20,000.

About DNA Labs India

DNA Labs India is a leading genetic testing laboratory in India, providing a range of genetic tests for various conditions. The laboratory is equipped with state-of-the-art technology and a team of highly skilled professionals who ensure accurate and reliable test results. DNA Labs India is committed to providing affordable genetic testing services to individuals and families.

Conclusion

The CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test can help in the diagnosis of Seckel Syndrome type 6, a rare genetic disorder that affects the growth and development of an individual. DNA Labs India offers this test at an affordable cost, ensuring that individuals and families can have access to accurate and reliable genetic testing services.

CEP63 (Centrosomal Protein 63) is a gene that plays a crucial role in centrosome function and cell division. Centrosomes are essential for organizing microtubules during cell division and ensuring accurate chromosome segregation.

Mutations in the CEP63 gene can disrupt these processes, leading to the characteristic features of Seckel syndrome, including microcephaly and growth restriction.

NGS (Next-Generation Sequencing) genetic DNA tests can be used to analyze the DNA sequence of genes like CEP63 to identify any mutations or variants that may be associated with Seckel Syndrome Type 6.

If you or someone you know is considering genetic testing for Seckel syndrome related to the CEP63 gene, I recommend consulting with a medical geneticist, a pediatrician, or a genetic counselor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment or management options. Medical knowledge can evolve, so it's important to rely on expert guidance for the latest information.