Short Description

NGS genetic DNA test detecets for variant and mutation detection in HDAC4 gene for Brachydactyly-mental retardation syndrome

PreTest Information

Clinical History of Patient who is going for HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic DNA Test gene HDAC4

Detail Description

HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic DNA Test

HDAC4 Gene Brachydactyly-mental retardation syndrome is a rare genetic disorder that affects the development of the fingers and toes, as well as intellectual abilities. The condition is caused by mutations in the HDAC4 gene, which provides instructions for making a protein that helps regulate gene expression.

Symptoms

The main symptoms of HDAC4 Gene Brachydactyly-mental retardation syndrome are:

• Short fingers and toes (brachydactyly)
• Delayed speech and language development
• Intellectual disability
• Behavioral problems, such as hyperactivity and aggression
• Seizures
• Abnormal curvature of the spine (scoliosis)

Diagnosis

HDAC4 Gene Brachydactyly-mental retardation syndrome can be diagnosed through genetic testing. Next-generation sequencing (NGS) is the most common type of genetic testing used to identify mutations in the HDAC4 gene. NGS is a high-throughput DNA sequencing technology that can analyze millions of DNA sequences at once, making it more efficient and cost-effective than traditional DNA sequencing methods.

Cost

In India, the cost of an HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic DNA Test is typically around INR 20,000.

Conclusion

HDAC4 Gene Brachydactyly-mental retardation syndrome is a rare genetic disorder that can cause significant developmental delays and intellectual disability. Early diagnosis through genetic testing is essential for effective management of the condition. NGS technology has made genetic testing more accessible and cost-effective, allowing more individuals to access the necessary testing and treatment for genetic disorders like HDAC4 Gene Brachydactyly-mental retardation syndrome.

If you suspect that you or a loved one may have HDAC4 Gene Brachydactyly-mental retardation syndrome, speak to your healthcare provider about genetic testing options.

For more information about genetic testing and DNA labs in India, contact DNA Labs India today.