Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHF8 gene for Mental retardation, X-linked, Siderius type

PreTest Information

Clinical History of Patient who is going for PHF8 Gene Mental retardation, X-linked, Siderius type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PHF8 Gene Mental retardation, X-linked, Siderius type

Detail Description

PHF8 Gene Mental Retardation, X-linked, Siderius Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PHF8 gene is responsible for encoding the protein that regulates gene expression by modifying histones. Mutations in the PHF8 gene have been associated with various developmental disorders, including mental retardation. Mental retardation, X-linked, Siderius type (MRXSSD) is a rare genetic disorder that is caused by mutations in the PHF8 gene.

Symptoms of MRXSSD

The symptoms of MRXSSD can vary from person to person, but some common symptoms include:

• Intellectual disability
• Delayed speech and language development
• Behavioral problems, such as hyperactivity and aggression
• Facial abnormalities, including a small head and a flat face
• Delayed motor skills

Diagnosis of MRXSSD

Diagnosis of MRXSSD can be done through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can identify mutations in the PHF8 gene. NGS is a type of DNA sequencing that can sequence millions of DNA fragments simultaneously. This allows for faster and more accurate diagnosis of genetic disorders.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for MRXSSD in India is approximately INR 20,000. The cost may vary depending on the laboratory and the specific tests being performed.

Conclusion

MRXSSD is a rare genetic disorder that is caused by mutations in the PHF8 gene. Symptoms of MRXSSD include intellectual disability, delayed speech and language development, and behavioral problems. Diagnosis of MRXSSD can be done through genetic testing using NGS technology. The cost of NGS genetic DNA testing for MRXSSD in India is approximately INR 20,000. Early diagnosis and intervention can help improve the quality of life for individuals with MRXSSD.

For more information on genetic testing for MRXSSD, contact DNA Labs India.