Short Description

NGS genetic DNA test detecets for variant and mutation detection in TUBB2A gene for Cortical dysplasia, complex, with other brain malformations, type 5

PreTest Information

Clinical History of Patient who is going for TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5

Detail Description

TUBB2A Gene Cortical Dysplasia, Complex, with Other Brain Malformations, Type 5: NGS Genetic DNA Test

Cortical dysplasia is a condition that occurs when the brain's outer layer, or cortex, does not form properly. This can lead to a variety of neurological symptoms, including seizures, developmental delays, and intellectual disability. Cortical dysplasia can be caused by a variety of genetic mutations, including those in the TUBB2A gene.

What is TUBB2A Gene Cortical Dysplasia, Complex, with Other Brain Malformations, Type 5?

TUBB2A gene cortical dysplasia, complex, with other brain malformations, type 5 (CDCBM5) is a rare genetic disorder that is caused by mutations in the TUBB2A gene. This condition is characterized by a variety of brain malformations, including abnormal cortical development, abnormal migration of neurons, and abnormalities in the formation of the brain's white matter. Individuals with CDCBM5 often experience seizures, intellectual disability, and developmental delays.

What are the Symptoms of TUBB2A Gene Cortical Dysplasia, Complex, with Other Brain Malformations, Type 5?

The symptoms of TUBB2A gene cortical dysplasia, complex, with other brain malformations, type 5 can vary widely from person to person. However, some common symptoms include:

• Seizures
• Developmental delays
• Intellectual disability
• Abnormal muscle tone
• Difficulty with movement

How is TUBB2A Gene Cortical Dysplasia, Complex, with Other Brain Malformations, Type 5 Diagnosed?

TUBB2A gene cortical dysplasia, complex, with other brain malformations, type 5 is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies, such as magnetic resonance imaging (MRI), can help identify the brain malformations associated with this condition. Genetic testing, such as next-generation sequencing (NGS), can confirm the presence of mutations in the TUBB2A gene.

What is the Cost of NGS Genetic DNA Test for TUBB2A Gene Cortical Dysplasia, Complex, with Other Brain Malformations, Type 5?

The cost of NGS genetic DNA testing for TUBB2A gene cortical dysplasia, complex, with other brain malformations, type 5 can vary depending on the laboratory that performs the test. At DNA Labs India, the cost of this test is INR 20,000.

Conclusion

TUBB2A gene cortical dysplasia, complex, with other brain malformations, type 5 is a rare genetic disorder that can cause a variety of neurological symptoms, including seizures, developmental delays, and intellectual disability. If you or a loved one is experiencing these symptoms, it is important to seek medical attention and consider genetic testing to determine the underlying cause of the condition.

At DNA Labs India, we offer a variety of genetic testing services, including NGS genetic DNA testing for TUBB2A gene cortical dysplasia, complex, with other brain malformations, type 5. Contact us today to learn more about our testing services and how we can help you get the answers you need.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic DNA Test