Short Description

NGS genetic DNA test detecets for variant and mutation detection in EYA1 gene for Branchiootorenal syndrome type 1

PreTest Information

Clinical History of Patient who is going for EYA1 Gene Branchiootorenal syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Branchiootorenal syndrome type 1 NGS Genetic DNA Test gene EYA1

Detail Description

EYA1 Gene Branchiootorenal Syndrome Type 1: NGS Genetic DNA Test Cost INR 20,000 - Symptoms & Diagnosis

Branchiootorenal Syndrome Type 1 is a rare genetic disorder that affects the kidneys and ears. This disease is caused by mutations in the EYA1 gene, which is responsible for producing a protein that is important for the development of these organs. The syndrome is characterized by hearing loss, kidney abnormalities, and malformations of the neck and ears.

Symptoms of Branchiootorenal Syndrome Type 1

The symptoms of Branchiootorenal Syndrome Type 1 can vary greatly, but some of the most common signs include:

• Hearing loss
• Kidney abnormalities
• Malformations of the neck and ears
• Abnormalities of the face and head
• Recurrent ear infections
• Cleft palate

It is important to note that not all individuals with EYA1 mutations will develop symptoms of Branchiootorenal Syndrome Type 1. Some people may have mutations in this gene, but will not experience any health problems.

Diagnosis of Branchiootorenal Syndrome Type 1

Diagnosing Branchiootorenal Syndrome Type 1 can be challenging because the symptoms can be quite varied. However, a doctor may suspect this condition if a patient presents with hearing loss, kidney abnormalities, or malformations of the ears or neck.

To confirm a diagnosis, a genetic test can be performed to look for mutations in the EYA1 gene. This test is typically done using Next Generation Sequencing (NGS) technology, which can identify even very small mutations in the DNA sequence.

NGS Genetic DNA Test Cost INR 20,000

DNA Labs India offers a Next Generation Sequencing (NGS) genetic DNA test for Branchiootorenal Syndrome Type 1. This test costs INR 20,000 and requires a small blood or saliva sample.

The test uses NGS technology to look for mutations in the EYA1 gene. Results are typically available within a few weeks and will indicate whether or not an individual has a mutation in this gene that could lead to Branchiootorenal Syndrome Type 1.

Conclusion

Branchiootorenal Syndrome Type 1 is a rare genetic disorder that can cause hearing loss, kidney abnormalities, and malformations of the neck and ears. Diagnosing this condition can be challenging, but a genetic test using NGS technology can help identify mutations in the EYA1 gene that could lead to this syndrome. DNA Labs India offers an NGS genetic DNA test for Branchiootorenal Syndrome Type 1 at a cost of INR 20,000.

If you suspect that you or a loved one may have this condition, it is important to speak with a healthcare provider to discuss testing options and potential treatment options.

Branchiootorenal syndrome type 1 (BOR1), also known as branchiootorenal dysplasia, is a rare genetic disorder characterized by a combination of ear, throat, and kidney abnormalities. The EYA1 gene is associated with this syndrome. The EYA1 gene is involved in the development of various structures during embryonic development, including the ears, throat, and kidneys.

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 Branchiootorenal Syndrome Type 1.

If you suspect that someone might have Branchiootorenal 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.