Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDK5RAP2 gene for Microcephaly, autosomal recessive type 3

PreTest Information

Clinical History of Patient who is going for CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 NGS Genetic DNA Test gene CDK5RAP2

Detail Description

CDK5RAP2 Gene Microcephaly: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Microcephaly is a rare neurological condition characterized by a significantly smaller head circumference in infants and children than normal. It is a congenital disorder that affects brain development and can lead to intellectual disability, seizures, and other neurological problems. One of the genes that have been linked to this condition is the CDK5RAP2 gene. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost of CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 in India.

Symptoms of CDK5RAP2 Gene Microcephaly

The symptoms of CDK5RAP2 Gene Microcephaly are usually noticeable at birth or shortly thereafter. The most common symptom is a significantly smaller head size than normal. Other symptoms include:

• Delayed development
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Difficulty with coordination and balance

It is important to note that not all individuals with CDK5RAP2 Gene Microcephaly will have all of these symptoms. The severity of the symptoms can vary widely, even among individuals with the same genetic mutation.

Diagnosis of CDK5RAP2 Gene Microcephaly

Diagnosis of CDK5RAP2 Gene Microcephaly is usually done through a combination of physical examination, medical history, and genetic testing. A doctor may measure a child's head circumference and compare it to normal measurements for their age. They may also perform a neurological exam to check for developmental delays, abnormal muscle tone, and other neurological problems.

Genetic testing is the most reliable way to diagnose CDK5RAP2 Gene Microcephaly. There are several types of genetic tests available, but NGS Genetic DNA testing is the most accurate and comprehensive. This test analyzes an individual's entire genome to identify genetic mutations that may be causing the condition. NGS Genetic DNA testing can detect even rare genetic mutations that other tests may miss.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA testing for CDK5RAP2 Gene Microcephaly in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the extent of the testing required. However, it is important to note that this test is usually not covered by health insurance and may need to be paid out-of-pocket.

Conclusion

CDK5RAP2 Gene Microcephaly is a rare genetic condition that can cause significant developmental delays and neurological problems. Symptoms of this condition include a significantly smaller head size than normal, delayed development, intellectual disability, seizures, and abnormal muscle tone. Diagnosis is usually done through a combination of physical examination and genetic testing, with NGS Genetic DNA testing being the most accurate and comprehensive. The cost of NGS Genetic DNA testing for CDK5RAP2 Gene Microcephaly in India is approximately INR 20,000 and may need to be paid out-of-pocket.

If you suspect that your child may have CDK5RAP2 Gene Microcephaly, it is important to speak with a healthcare provider as soon as possible. Early diagnosis and intervention can help improve outcomes and quality of life for individuals with this condition.

The CDK5RAP2 gene encodes a protein known as CDK5 regulatory subunit-associated protein 2, which is involved in cell division and brain development.

Mutations in the CDK5RAP2 gene can lead to Microcephaly, Autosomal Recessive Type 3, which is characterized by significantly reduced head size and potential developmental delays.

NGS (Next-Generation Sequencing) genetic DNA tests are used to analyze the DNA sequence of genes like CDK5RAP2 to identify any mutations or variants that may be associated with Microcephaly, Autosomal Recessive Type 3.

If you or someone you know is considering genetic testing for Microcephaly related to the CDK5RAP2 gene, I recommend consulting with a medical geneticist, a neurologist, 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.