Short Description

NGS genetic DNA test detecets for variant and mutation detection in SOX10 gene for Waardenburg syndrome type 2E

PreTest Information

Clinical History of Patient who is going for SOX10 Gene Waardenburg syndrome type 2E NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SOX10 Gene Waardenburg syndrome type 2E NGS Genetic DNA Test gene SOX10

Detail Description

SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic DNA Test

Waardenburg Syndrome is a genetic disorder that affects the pigmentation and hearing of an individual. It is caused due to mutations in various genes, including the SOX10 gene. Waardenburg Syndrome Type 2E is a subtype of the disorder that is caused due to mutations in the SOX10 gene.

The SOX10 gene provides instructions for making a protein that plays a crucial role in the development of several cell types, including melanocytes, which produce the pigment melanin that gives color to the skin, hair, and eyes, as well as nerve cells that transmit signals from the brain to different parts of the body. Mutations in the SOX10 gene disrupt the normal functioning of these cells, leading to the symptoms associated with Waardenburg Syndrome Type 2E.

Symptoms of Waardenburg Syndrome Type 2E

The symptoms of Waardenburg Syndrome Type 2E are variable and can range from mild to severe. Some of the common symptoms include:

• White patches of skin or hair
• Abnormal pigmentation of the iris
• Hearing loss
• Abnormalities in the shape or position of the eyes
• Cleft lip or palate
• Abnormalities in the development of the facial bones

The severity and combination of symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of Waardenburg Syndrome Type 2E

Diagnosis of Waardenburg Syndrome Type 2E involves a thorough clinical evaluation and genetic testing. A genetic test can identify mutations in the SOX10 gene that are responsible for the disorder. The most common genetic test used for diagnosis is Next Generation Sequencing (NGS) Genetic DNA Test.

NGS Genetic DNA Test for Waardenburg Syndrome Type 2E

The NGS Genetic DNA Test for Waardenburg Syndrome Type 2E is a state-of-the-art genetic test that can identify mutations in the SOX10 gene. The test is performed using a blood sample and can detect even small changes in the DNA sequence of the gene. The test is highly accurate and can confirm a diagnosis of Waardenburg Syndrome Type 2E in affected individuals.

Cost of NGS Genetic DNA Test for Waardenburg Syndrome Type 2E

The cost of the NGS Genetic DNA Test for Waardenburg Syndrome Type 2E in India is INR 20,000. The test is not covered by insurance, and the cost may vary depending on the laboratory or hospital where it is performed.

Conclusion

Waardenburg Syndrome Type 2E is a rare genetic disorder that can affect various aspects of an individual's health. The NGS Genetic DNA Test is a highly accurate and reliable diagnostic tool that can identify mutations in the SOX10 gene responsible for the disorder. Early diagnosis and treatment can help affected individuals manage their symptoms better and improve their quality of life.

If you suspect that you or someone you know may have Waardenburg Syndrome Type 2E, it is important to consult a genetic counselor or healthcare provider who can guide you through the diagnostic process and provide appropriate care.

Contact DNA Labs India to book an appointment for the NGS Genetic DNA Test for Waardenburg Syndrome Type 2E at an affordable cost.