Short Description

NGS genetic DNA test detecets for variant and mutation detection in TP63 gene for Ankyloblepharon-ectodermal defects-cleft lip/palate

PreTest Information

Clinical History of Patient who is going for TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic DNA Test gene TP63

Detail Description

TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic DNA Test

TP63 gene Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare genetic disorder that affects the development of ectodermal tissues such as the skin, hair, nails, and teeth. It is caused by mutations in the TP63 gene, which provides instructions for making a protein that is essential for the formation and maintenance of these tissues.

Symptoms

The symptoms of AEC syndrome can vary widely depending on the specific mutation in the TP63 gene. Some common symptoms include:

• Ankyloblepharon - a condition where the eyelids are fused together
• Ectodermal defects - abnormalities in the skin, hair, nails, and teeth
• Cleft lip and/or palate - a split in the upper lip and/or roof of the mouth
• Delayed growth and development
• Recurrent infections
• Hearing loss

Diagnosis

AEC syndrome can be diagnosed through genetic testing, specifically Next-Generation Sequencing (NGS) Genetic DNA testing. This type of testing can identify mutations in the TP63 gene and confirm a diagnosis of AEC syndrome.

It is recommended that individuals with suspected AEC syndrome undergo genetic testing as soon as possible, as early diagnosis can lead to better management and treatment of the condition.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA testing for TP63 gene Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in India is typically around INR 20,000.

Conclusion

TP63 gene Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome is a rare genetic disorder that can cause a range of symptoms affecting the skin, hair, nails, teeth, and other tissues. Early diagnosis through NGS Genetic DNA testing is important for proper management and treatment of the condition. If you suspect you or a loved one may have AEC syndrome, speak to a genetic counselor or healthcare provider to determine the best course of action.

At DNA Labs India, we offer NGS Genetic DNA testing for TP63 gene Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, as well as a range of other genetic disorders. Contact us today to learn more about our testing services.