Short Description

NGS genetic DNA test detecets for variant and mutation detection in TP63 gene for Rapp-Hodgkin syndrome

PreTest Information

Clinical History of Patient who is going for TP63 Gene Rapp-Hodgkin syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TP63 Gene Rapp-Hodgkin syndrome NGS Genetic DNA Test gene TP63

Detail Description

TP63 Gene Rapp-Hodgkin Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Rapp-Hodgkin syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC), is a rare genetic disorder characterized by abnormalities in the development of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The syndrome is caused by mutations in the TP63 gene, which provides instructions for making a protein that plays a crucial role in the formation of ectodermal tissues.

Symptoms of Rapp-Hodgkin Syndrome

The symptoms of Rapp-Hodgkin syndrome can vary widely from person to person, but they typically include:

• Cleft palate or lip
• Ankyloblepharon (fusion of the eyelids)
• Abnormalities of the teeth
• Hair and nail abnormalities
• Abnormalities of the sweat glands
• Short stature
• Intellectual disability
• Hearing loss

Diagnosis of Rapp-Hodgkin Syndrome

Rapp-Hodgkin syndrome is usually diagnosed based on the presence of characteristic symptoms and a genetic test that identifies mutations in the TP63 gene. This test is usually performed using a next-generation sequencing (NGS) approach, which can detect mutations in multiple genes simultaneously.

TP63 Gene NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for the TP63 gene can vary depending on the laboratory performing the test and the specific tests ordered. At DNA Labs India, the cost of an NGS genetic DNA test for the TP63 gene is INR 20000.

Conclusion

Rapp-Hodgkin syndrome is a rare genetic disorder caused by mutations in the TP63 gene. The syndrome is characterized by abnormalities in the development of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The diagnosis of Rapp-Hodgkin syndrome is usually based on the presence of characteristic symptoms and a genetic test that identifies mutations in the TP63 gene. The cost of an NGS genetic DNA test for the TP63 gene at DNA Labs India is INR 20000.

If you suspect that you or a loved one may have Rapp-Hodgkin syndrome, it is important to seek medical attention and genetic testing to confirm the diagnosis. DNA Labs India offers a variety of genetic testing services, including NGS genetic DNA tests for Rapp-Hodgkin syndrome and other genetic disorders. Contact us today to learn more about our services.

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 TP63 Gene Rapp-Hodgkin syndrome NGS Genetic DNA Test