Short Description

NGS genetic DNA test detecets for variant and mutation detection in TUBA1A gene for Lissencephaly type 3

PreTest Information

Clinical History of Patient who is going for TUBA1A Gene Lissencephaly type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TUBA1A Gene Lissencephaly type 3 NGS Genetic DNA Test gene TUBA1A

Detail Description

TUBA1A Gene Lissencephaly Type 3 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

TUBA1A gene Lissencephaly type 3 is a rare genetic disorder that affects brain development. The disorder is caused by mutations in the TUBA1A gene, which provides instructions for making a protein called alpha-tubulin. Alpha-tubulin is a critical component of microtubules, which are structures that help cells maintain their shape and support cell division.

Symptoms of TUBA1A Gene Lissencephaly Type 3

The symptoms of TUBA1A gene Lissencephaly type 3 can vary widely from person to person. Some of the common symptoms include:

• Severe developmental delay
• Intellectual disability
• Seizures
• Poor muscle tone (hypotonia)
• Difficulty swallowing (dysphagia)
• Abnormal muscle stiffness and spasms (spasticity)
• Abnormal curvature of the spine (scoliosis)
• Small head size (microcephaly)

Diagnosis of TUBA1A Gene Lissencephaly Type 3

Diagnosis of TUBA1A gene Lissencephaly type 3 is typically done through genetic testing. Next-generation sequencing (NGS) is a common genetic test used to identify mutations in the TUBA1A gene. This test involves analyzing a person's DNA sample to look for changes in the gene that may be causing the disorder.

NGS testing is a highly accurate and sensitive method of detecting genetic mutations. It can identify mutations even in cases where other diagnostic tests have been inconclusive. NGS testing is also relatively fast, with results typically available within a few weeks.

Cost of TUBA1A Gene Lissencephaly Type 3 NGS Genetic DNA Test in India

The cost of NGS genetic testing for TUBA1A gene Lissencephaly type 3 in India is around INR 20,000. This cost may vary depending on the specific testing laboratory and the type of testing performed.

It is important to note that genetic testing for TUBA1A gene Lissencephaly type 3 is not typically covered by insurance. However, some testing laboratories may offer payment plans or financial assistance programs to help make testing more affordable.

Conclusion

TUBA1A gene Lissencephaly type 3 is a rare genetic disorder that can have a significant impact on a person's development and quality of life. Genetic testing using NGS technology is an effective way to diagnose the disorder and provide accurate information about its underlying cause. Although the cost of testing can be a barrier for some families, financial assistance programs may be available to help make testing more accessible.

If you suspect that you or a loved one may have TUBA1A gene Lissencephaly type 3, speak with your healthcare provider about the possibility of genetic testing. Early diagnosis and intervention can help improve outcomes and quality of life for individuals with this disorder.

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 TUBA1A Gene Lissencephaly type 3 NGS Genetic DNA Test