Short Description

NGS genetic DNA test detecets for variant and mutation detection in DDX59 gene for Orofaciodigital syndrome type 5

PreTest Information

Clinical History of Patient who is going for DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic DNA Test gene DDX59

Detail Description

DDX59 Gene Orofaciodigital Syndrome Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Orofaciodigital syndrome type 5 (OFD5) is a rare genetic disorder that affects the development of the face, mouth, and digits. It is caused by mutations in the DDX59 gene, which provides instructions for making a protein involved in the formation of cilia.

NGS (Next-Generation Sequencing) genetic DNA testing is a highly advanced technique used to identify mutations in genes associated with genetic disorders such as OFD5. The cost of an NGS genetic DNA test for the DDX59 gene in India is approximately INR 20,000.

Symptoms of OFD5

OFD5 is characterized by a range of symptoms that can vary in severity and presentation. Some of the most common symptoms include:

• Abnormalities in the face, such as a small mouth, a short nose, and a cleft lip or palate
• Abnormalities in the digits, such as extra fingers or toes, fused fingers or toes, or missing digits
• Abnormalities in the kidneys, liver, and pancreas
• Intellectual disability or developmental delays

Diagnosis of OFD5

OFD5 is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. A physical exam may reveal abnormalities in the face, mouth, and digits, while imaging studies such as X-rays and ultrasounds can reveal abnormalities in the kidneys, liver, and pancreas.

Genetic testing is the most definitive method for diagnosing OFD5. NGS genetic DNA testing can identify mutations in the DDX59 gene that are associated with the disorder.

Conclusion

OFD5 is a rare genetic disorder that can have significant impacts on a person's health and quality of life. NGS genetic DNA testing is an important tool for diagnosing the disorder and identifying potential treatment options. While the cost of an NGS genetic DNA test for the DDX59 gene in India is approximately INR 20,000, the benefits of early diagnosis and treatment can be invaluable.

It is important for individuals who suspect they may have OFD5 to speak with a qualified healthcare provider and consider genetic testing to determine the cause of their symptoms.