Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP135 gene for Microcephaly, autosomal recessive type 8

PreTest Information

Clinical History of Patient who is going for CEP135 Gene Microcephaly, autosomal recessive type 8 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP135 Gene Microcephaly, autosomal recessive type 8 NGS Genetic DNA Test gene CEP135

Detail Description

CEP135 Gene Microcephaly: Symptoms, Diagnosis and NGS Genetic DNA Test cost in India

Microcephaly is a rare neurological condition where the head size of a newborn baby is smaller than expected. It can occur due to various genetic and environmental factors. One such genetic factor is the CEP135 gene mutation, which causes autosomal recessive type 8 microcephaly. This condition can be diagnosed through NGS Genetic DNA testing, which is available in India at a cost of INR 20,000.

Symptoms of CEP135 Gene Microcephaly

Microcephaly caused by a CEP135 gene mutation is a rare condition. The symptoms of this condition can vary from person to person. Some common symptoms include:

• Small head size
• Delayed development
• Intellectual disability
• Seizures
• Muscle stiffness
• Abnormal eye movements

It is important to note that not all individuals with a CEP135 gene mutation will have all of these symptoms. Some individuals may have only a few of these symptoms or may not have any symptoms at all.

Diagnosis of CEP135 Gene Microcephaly

The diagnosis of CEP135 gene microcephaly is based on a combination of clinical evaluation and genetic testing. A doctor may suspect this condition if an infant has a small head size and delayed development. To confirm the diagnosis, a doctor may order genetic testing.

NGS Genetic DNA testing is a type of genetic testing that can detect mutations in multiple genes at once. This test can help identify the specific mutation in the CEP135 gene that is causing microcephaly in an individual. NGS Genetic DNA testing is available in India at a cost of INR 20,000.

Conclusion

CEP135 gene microcephaly is a rare condition that can cause a small head size, delayed development, intellectual disability, seizures, muscle stiffness, and abnormal eye movements. The diagnosis of this condition is based on a combination of clinical evaluation and genetic testing. NGS Genetic DNA testing is available in India at a cost of INR 20,000 and can help identify the specific mutation in the CEP135 gene that is causing microcephaly in an individual.

If you suspect that your child may have microcephaly caused by a CEP135 gene mutation, it is important to consult a doctor and discuss the possibility of genetic testing. Early diagnosis and intervention can help improve outcomes for individuals with this condition.

For more information on genetic testing and microcephaly, contact DNA Labs India.