GJB2

Deafness and hereditary hearing loss, nonsyndromic

Summary Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems), or nonsyndromic (no other visible abnormalities of the external ear or any related medical problem); and prelingual (before language develops) or

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Congenital ichthyosis

SKIN SCALES Recommended panel testing at Breda Genetics for this condition: Congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, ARCI7, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, ST14, SULT2B1, TGM1) Skin-only ichthyosis Congenital ichthyosis is a genetically heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the body. These disorders are limited to skin

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