Short Description

NGS genetic DNA test detecets for variant and mutation detection in MBTPS2 gene for Ichthyosis follicularis, atricia, and photophobia syndrome

PreTest Information

Clinical History of Patient who is going for MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic DNA Test gene MBTPS2

Detail Description

MBTPS2 Gene Ichthyosis Follicularis, Atricia, and Photophobia Syndrome NGS Genetic DNA Test

Ichthyosis Follicularis, Atricia, and Photophobia Syndrome (IFAP) is a rare genetic disorder that affects the skin, hair, and eyes. It is caused by mutations in the MBTPS2 gene, which provides instructions for making an enzyme that is involved in the processing of certain proteins.

IFAP is characterized by dry, scaly skin that is prone to infections, as well as hair loss and thickened, ridged nails. Affected individuals also have absent or underdeveloped ear canals, leading to hearing loss, and are sensitive to light, which can cause eye pain and discomfort.

Symptoms of IFAP

The symptoms of IFAP can vary widely from person to person, but typically include:

• Dry, scaly skin
• Hair loss
• Thickened, ridged nails
• Absent or underdeveloped ear canals
• Hearing loss
• Sensitivity to light

Diagnosis of IFAP

IFAP is typically diagnosed based on a combination of clinical symptoms and genetic testing. A skin biopsy may also be performed to examine the skin cells under a microscope.

Genetic testing for IFAP involves sequencing the MBTPS2 gene to identify any mutations that may be present. This can be done using Next Generation Sequencing (NGS) technology, which is a powerful tool for identifying genetic mutations quickly and accurately.

Cost of IFAP NGS Genetic DNA Test

The cost of IFAP NGS Genetic DNA Test in India is INR 20,000.

Conclusion

IFAP is a rare genetic disorder that can have a significant impact on a person's quality of life. Early diagnosis and genetic testing are important for identifying the underlying cause of the disorder and providing appropriate treatment and management.

The IFAP NGS Genetic DNA Test is a powerful tool for identifying mutations in the MBTPS2 gene quickly and accurately. If you or a loved one are experiencing symptoms of IFAP, it is important to speak with a healthcare professional and consider genetic testing to get an accurate diagnosis and appropriate treatment.

At DNA Labs India, we offer a range of genetic testing services, including the IFAP NGS Genetic DNA Test. Contact us today to learn more about our services and how we can help you get the answers you need.