Short Description

NGS genetic DNA test detecets for variant and mutation detection in CENPE gene for Microcephaly, autosomal recessive type 13

PreTest Information

Clinical History of Patient who is going for CENPE Gene Microcephaly, autosomal recessive type 13 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CENPE Gene Microcephaly, autosomal recessive type 13 NGS Genetic DNA Test gene CENPE

Detail Description

CENPE Gene Microcephaly: Symptoms, Diagnosis, and NGS Genetic DNA Test

Microcephaly is a condition in which the head size of a newborn baby is significantly smaller than the average size for their age and sex. It can be caused by a variety of genetic and environmental factors. One of the genetic causes of microcephaly is the CENPE gene, specifically the autosomal recessive type 13.

The CENPE gene is responsible for encoding a protein called centromere-associated protein E. This protein is involved in the proper alignment of chromosomes during cell division. Mutations in the CENPE gene can lead to abnormal cell division and ultimately microcephaly.

Symptoms of CENPE Gene Microcephaly

The symptoms of CENPE gene microcephaly can vary depending on the severity of the condition. Some common symptoms include:

• Small head size
• Mental retardation
• Delayed motor and speech development
• Seizures
• Abnormal facial features

Diagnosis of CENPE Gene Microcephaly

CENPE gene microcephaly can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once. This makes it a useful tool for diagnosing genetic disorders like microcephaly.

NGS genetic testing for CENPE gene microcephaly typically costs around INR 20,000. However, the cost may vary depending on the specific testing center and location.

If a child is suspected of having microcephaly, a doctor may order genetic testing to confirm the diagnosis. The testing process typically involves taking a blood sample from the child and analyzing it in a laboratory.

Conclusion

CENPE gene microcephaly is a rare genetic disorder that can cause significant developmental delays in affected individuals. If you suspect that your child may have microcephaly, it is important to seek medical attention and consider genetic testing to confirm the diagnosis. NGS genetic testing can be a useful tool in diagnosing CENPE gene microcephaly, and the cost may vary depending on the testing center and location.

At DNA Labs India, we provide NGS genetic testing for a variety of genetic disorders, including CENPE gene microcephaly. Contact us today to learn more about our testing services and how we can help you and your family.