Symptoms and Testing information for PAX3 Gene Waardenburg Syndrome Type 1 Genetic Test

Symptoms and Testing information for PAX3 Gene Waardenburg Syndrome Type 1 Genetic Test

Understanding Waardenburg Syndrome Type 1 and the Role of PAX3 Gene Waardenburg Syndrome Type 1 is a rare genetic disorder that affects the development of several body systems, most notably the pigmentation of the skin, hair, and eyes, and the function of the inner ear. This condition is caused by mutations in the PAX3 gene, […]

Symptoms and Testing information for SOX10 Gene Waardenburg Syndrome Type 2E Genetic Test

Symptoms and Testing information for SOX10 Gene Waardenburg Syndrome Type 2E Genetic Test

Waardenburg Syndrome is a rare genetic disorder characterized by distinctive facial features, varying degrees of hearing loss, and pigmentation anomalies of the hair, skin, and eyes. Among the several types of Waardenburg Syndrome, Type 2E, associated with mutations in the SOX10 gene, is notable for its complex manifestations, which may also affect the neurological and […]

Symptoms and Testing information for SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test

Symptoms and Testing information for SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test

Waardenburg Syndrome Type 4C, also known as Waardenburg-Shah syndrome, is a rare genetic disorder characterized by a combination of hearing loss, changes in coloring (pigmentation) of the skin, hair, and eyes, and Hirschsprung disease, a condition that causes blockages in the large intestine. This syndrome is caused by mutations in the SOX10 gene, which plays […]

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