Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP152 gene for Seckel syndrome type 5

PreTest Information

Clinical History of Patient who is going for CEP152 Gene Seckel syndrome type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP152 Gene Seckel syndrome type 5 NGS Genetic DNA Test gene CEP152

Detail Description

CEP152 Gene and Seckel Syndrome Type 5: Understanding Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

Seckel Syndrome Type 5 is a rare genetic disorder that affects only a handful of people worldwide. It is caused by mutations in the CEP152 gene, which is responsible for the proper functioning of the centrosome. The centrosome is an essential organelle in the cell that helps in the organization of chromosomes during cell division. Mutations in the CEP152 gene lead to abnormal centrosome function, resulting in the development of Seckel Syndrome Type 5.

Symptoms of Seckel Syndrome Type 5

Seckel Syndrome Type 5 is characterized by a range of symptoms, including:

• Microcephaly - a small head size
• Growth retardation - slow growth and development
• Cognitive impairment - intellectual disability and learning difficulties
• Facial abnormalities - such as a beaked nose, small jaw, and small ears
• Skeletal abnormalities - such as short stature, thin bones, and abnormal curvature of the spine
• Eye abnormalities - such as small eyes and cataracts

Diagnosis of Seckel Syndrome Type 5

Diagnosis of Seckel Syndrome Type 5 is usually made based on clinical features, such as microcephaly and growth retardation, along with genetic testing. Genetic testing involves sequencing the CEP152 gene to identify mutations that may be responsible for the disorder. This can be done using Next Generation Sequencing (NGS) technology, which allows for the efficient and accurate sequencing of large amounts of DNA.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for Seckel Syndrome Type 5 in India varies depending on the laboratory and the specific test being performed. However, on average, the cost of NGS genetic DNA testing for Seckel Syndrome Type 5 in India is around INR 20,000.

It is important to note that while genetic testing can provide a definitive diagnosis for Seckel Syndrome Type 5, it may not always be necessary. Diagnosis can also be made based on clinical features alone, and genetic testing may not be available or accessible in all cases. However, genetic testing can be useful in confirming a diagnosis and in identifying other family members who may be at risk of developing the disorder.

Conclusion

Seckel Syndrome Type 5 is a rare genetic disorder that can have significant impacts on the health and well-being of those affected. Understanding the symptoms and diagnosis of the disorder, as well as the availability and cost of genetic testing, can be helpful for individuals and families who may be affected by the disorder. If you suspect that you or a family member may have Seckel Syndrome Type 5, it is important to consult with a healthcare professional for proper diagnosis and management.

At DNA Labs India, we offer NGS genetic DNA testing for Seckel Syndrome Type 5, as well as a range of other genetic disorders. Our state-of-the-art laboratory and experienced team of geneticists ensure accurate and reliable results, with a commitment to patient confidentiality and satisfaction. Contact us today to learn more about our services and how we can assist you with your genetic testing needs.