Introduction

Waardenburg syndrome is a group of genetic conditions that affect the pigmentation and hearing of an individual. There are four main types of Waardenburg syndrome, and type 2D is caused by mutations in the SNAI2 gene.

Symptoms

Individuals with Waardenburg syndrome type 2D typically have white forelocks or patches of white hair, as well as bright blue eyes. They may also have hearing loss or issues with their vision. Some individuals may have a cleft lip or palate, and some may have abnormalities in their digestive system or urinary tract.

Diagnosis

Diagnosis of Waardenburg syndrome type 2D can be made through genetic testing. Specifically, next-generation sequencing (NGS) of the SNAI2 gene can identify mutations that cause this type of Waardenburg syndrome. In addition, physical exams and hearing and vision tests can help confirm the diagnosis.

Cost of NGS Genetic DNA Test

The cost of an NGS genetic DNA test for SNAI2 gene Waardenburg syndrome type 2D at DNA Labs India is INR 20000.

Conclusion

Waardenburg syndrome type 2D is caused by mutations in the SNAI2 gene and can be diagnosed through genetic testing. DNA Labs India offers NGS genetic DNA testing for this condition at a cost of INR 20000. Symptoms of this condition include white forelocks or patches of white hair, bright blue eyes, and hearing or vision loss.