Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP290 gene for Meckel syndrome type 4

PreTest Information

Clinical History of Patient who is going for CEP290 Gene Meckel syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Meckel syndrome type 4 NGS Genetic DNA Test gene CEP290

Detail Description

CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Meckel Syndrome Type 4 is a rare genetic disorder that affects multiple organs in the body. It is caused by mutations in the CEP290 gene. This gene provides instructions for making a protein that is essential for the normal development and function of cilia, which are hair-like structures that protrude from the surface of cells and are involved in various cellular processes.

Meckel Syndrome Type 4 is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Individuals with only one copy of the mutated gene are called carriers and do not typically show any symptoms of the disorder.

Symptoms of Meckel Syndrome Type 4

The symptoms of Meckel Syndrome Type 4 can vary widely among affected individuals, even among members of the same family. Some of the most common symptoms of the disorder include:

• Polydactyly (extra fingers or toes)
• Encephalocele (a sac-like protrusion of the brain through the skull)
• Cleft lip and/or palate
• Microcephaly (abnormally small head size)
• Kidney abnormalities
• Liver abnormalities
• Abnormalities of the eyes, including retinal dystrophy and coloboma (a gap or hole in one of the structures of the eye)

Other symptoms may include respiratory problems, developmental delays, and seizures.

Diagnosis of Meckel Syndrome Type 4

Meckel Syndrome Type 4 is typically diagnosed based on clinical features and imaging studies. Genetic testing can confirm the diagnosis and identify the specific mutation in the CEP290 gene. NGS (Next-Generation Sequencing) technology is used to sequence the entire coding region of the gene, which can detect both small and large mutations.

Cost of Meckel Syndrome Type 4 NGS Genetic DNA Test in India

The cost of Meckel Syndrome Type 4 NGS Genetic DNA Test in India is around INR 20,000. This cost may vary depending on the laboratory and location of the testing facility.

Conclusion

Meckel Syndrome Type 4 is a rare genetic disorder that can have a significant impact on affected individuals and their families. Early diagnosis through genetic testing can help to provide appropriate medical management and counseling for affected individuals and their families. The cost of Meckel Syndrome Type 4 NGS Genetic DNA Test in India is affordable and accessible, making it an important tool for diagnosis and management of this rare disorder.

At DNA Labs India, we offer high-quality genetic testing services, including Meckel Syndrome Type 4 NGS Genetic DNA Test, at affordable prices. Contact us today to learn more about our services and how we can help you.