Short Description

NGS genetic DNA test detecets for variant and mutation detection in EYA1 gene for Otofaciocervical syndrome

PreTest Information

Clinical History of Patient who is going for EYA1 Gene Otofaciocervical syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Otofaciocervical syndrome NGS Genetic DNA Test gene EYA1

Detail Description

EYA1 Gene: Understanding Otofaciocervical Syndrome

Otofaciocervical syndrome (OFC) is a rare genetic disorder that affects the development of the ears, face, and neck. The condition is caused by mutations in the EYA1 gene, which provides instructions for making a protein that is important for the formation of these structures. OFC can have a wide range of symptoms, which can vary in severity from person to person.

Symptoms of Otofaciocervical Syndrome

The symptoms of OFC can include:

• Abnormalities of the ears, such as a lack of ear canals or small, malformed ears
• Facial abnormalities, such as a cleft palate, small jaw, or small chin
• Abnormalities of the neck, such as webbing or a short neck
• Hearing loss or deafness
• Speech and language delays
• Vision problems

These symptoms can be present at birth or may develop over time. They can also vary in severity, with some individuals experiencing only mild symptoms while others may have more severe symptoms that require medical intervention.

Diagnosis of Otofaciocervical Syndrome

OFC is typically diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor may examine a patient's ears, face, and neck for physical abnormalities and may order imaging tests, such as X-rays or CT scans, to further evaluate these structures. Genetic testing can confirm a diagnosis of OFC by identifying mutations in the EYA1 gene.

NGS Genetic DNA Test Cost in India

In India, the cost of NGS genetic DNA testing for OFC can vary depending on the laboratory and the specific testing method used. At DNA Labs India, our NGS genetic DNA test for OFC costs INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze a patient's DNA for mutations in the EYA1 gene.

Conclusion

Otofaciocervical syndrome is a rare genetic disorder that can have a wide range of symptoms affecting the ears, face, and neck. Diagnosis typically involves a combination of physical examination and genetic testing, with NGS genetic DNA testing being a common method used to confirm a diagnosis. At DNA Labs India, we offer NGS genetic DNA testing for OFC at an affordable cost of INR 20,000.

If you or someone you know is experiencing symptoms of OFC, it is important to seek medical attention and consider genetic testing to confirm a diagnosis. With early diagnosis and intervention, individuals with OFC can receive appropriate treatment and support for their specific symptoms and needs.

Contact DNA Labs India today to learn more about our NGS genetic DNA testing for OFC and other genetic disorders.

Otofaciocervical syndrome (OFD1) is a rare genetic disorder characterized by a combination of ear, face, and cervical spine abnormalities. The EYA1 gene is associated with a subtype of OFD1 known as "Otofaciocervical Syndrome Type 1." The EYA1 gene plays a crucial role in the development of various structures in the head and neck region during embryonic development.

A Next-Generation Sequencing (NGS) genetic DNA test for the EYA1 gene would involve sequencing the DNA of an individual to identify any variations or mutations within the gene that could be linked to Otofaciocervical Syndrome Type 1.

If you suspect that someone might have Otofaciocervical Syndrome Type 1 or if there's a family history of the condition, it's important to consult with a medical geneticist or a healthcare professional experienced in genetics. They can guide you through the process of genetic testing, provide appropriate counseling, and help interpret the test results. Genetic testing can offer valuable insights into the genetic basis of the condition and assist in making informed medical decisions.