Genetic Test
The MYO7A (Myosin VIIA) gene encodes a motor protein involved in intracellular transport and molecular movement.
This myosin protein plays a vital role in the structure and function of sensory cells, particularly within the inner ear.
The ear is anatomically divided into three parts:
•
The outer ear, which captures sound and transmits it to the eardrum
•
The middle ear, which transfers vibrations from the eardrum to the inner ear
•
The inner ear, which contains the cochlea, responsible for detecting sound vibrations and converting them into nerve signals.
MYO7A is essential for the proper function of cochlear hair cells, which are critical for hearing.
This genetic test targets a specific MYO7A mutation associated with sensorineural deafness.
Disease Description
Hearing loss refers to difficulty in detecting or interpreting sound and is considered a symptom rather than a specific diagnosis.
It can result from a wide range of causes, and depending on the underlying condition, hearing loss may fall under various clinical classifications.
Broadly, it can be categorized into congenital and acquired hearing loss.
This genetic test specifically addresses congenital hearing loss caused by inherited genetic mutations
.
Congen\ital hearing loss is present from birth and is typically permanent
, often resulting from abnormalities in the development or function of inner ear structures.
