Use

The Usher syndrome type IF test offers molecular detection of one pathogenic variant in the PCDH15 gene, R245* (c.733C>T), which accounts for greater than 75% of Ashkenazi‑Jewish Usher syndrome type IF pathogenic variants. Usher syndrome type IF is an autosomal recessive condition characterized by profound congenital sensorineural deafness and progressive loss of vision due to retinitis pigmentosa beginning in childhood or adolescence.