Short Description

NGS genetic DNA test detecets for variant and mutation detection in TUBG1 gene for Neurodevelopmental malformation and microcephaly

PreTest Information

Clinical History of Patient who is going for TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TUBG1 Gene Neurodevelopmental malformation and microcephaly

Detail Description

TUBG1 Gene Neurodevelopmental Malformation and Microcephaly: NGS Genetic DNA Test

Neurodevelopmental malformations and microcephaly are two serious neurological conditions that can have a profound impact on a person's life. They are caused by a variety of genetic and environmental factors, and diagnosing them can be challenging. However, advances in genetic testing have made it possible to identify the specific genes responsible for these conditions, including the TUBG1 gene.

The TUBG1 Gene and Neurodevelopmental Malformations

The TUBG1 gene is responsible for encoding a protein called gamma-tubulin, which is essential for the proper functioning of the microtubules that make up the cell's cytoskeleton. Mutations in this gene have been linked to a variety of neurodevelopmental malformations, including microcephaly, lissencephaly, and agenesis of the corpus callosum.

Microcephaly is a condition in which the head circumference is smaller than normal, which can indicate a smaller brain size. This can lead to developmental delays, intellectual disability, and other neurological problems. Lissencephaly is a condition in which the surface of the brain is smooth, rather than having the normal folds and grooves. This can also lead to developmental delays and intellectual disability. Agenesis of the corpus callosum is a condition in which the band of nerve fibers connecting the two hemispheres of the brain fails to develop properly, which can also lead to developmental delays and intellectual disability.

NGS Genetic DNA Test for TUBG1 Gene Mutations

If you or a loved one has symptoms of a neurodevelopmental malformation or microcephaly, it may be worth considering genetic testing to identify the underlying cause. The most effective type of genetic testing for these conditions is next-generation sequencing (NGS) of the TUBG1 gene.

NGS is a high-throughput method of DNA sequencing that can rapidly identify mutations in specific genes, including the TUBG1 gene. This test involves collecting a small sample of DNA, typically from a blood or saliva sample, and analyzing it for mutations in the TUBG1 gene.

Symptoms of Neurodevelopmental Malformations and Microcephaly

The symptoms of neurodevelopmental malformations and microcephaly can vary depending on the severity of the condition. Some common symptoms include:

• Small head size
• Developmental delays
• Intellectual disability
• Seizures
• Difficulty with motor skills
• Speech and language delays
• Behavioral problems

Diagnosing Neurodevelopmental Malformations and Microcephaly

Diagnosing neurodevelopmental malformations and microcephaly can be challenging, as there are many different conditions that can cause similar symptoms. However, genetic testing can help identify the specific genetic mutations responsible for these conditions.

If you or a loved one is experiencing symptoms of a neurodevelopmental malformation or microcephaly, it is important to talk to a healthcare provider about the possibility of genetic testing. Testing can help provide a more accurate diagnosis, which can lead to more effective treatment and management of symptoms.

Cost of NGS Genetic DNA Test for TUBG1 Gene Mutations

The cost of an NGS genetic DNA test for TUBG1 gene mutations can vary depending on the specific testing provider and location. However, the average cost in India is around INR 20,000.

Conclusion

Neurodevelopmental malformations and microcephaly can have a significant impact on a person's life, but genetic testing can help identify the underlying cause and provide more effective treatment and management of symptoms. If you or a loved one is experiencing symptoms of these conditions, it may be worth considering an NGS genetic DNA test for mutations in the TUBG1 gene.

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 TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic DNA Test