Disorders

DFNA 9 Nonsyndromic Hearing Loss and Deafness

Synonym(s): DFNA 9, DFNA9

Gene	Locus	Protein
COCH	14q11.2-q13	Cochlin

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA	• Sequence analysis of select exons
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of select exons
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium	• Sequence analysis of select exons

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.