Disorders


 

DFNA 6/14/38 Nonsyndromic Hearing Loss and Deafness


Synonym(s): DFNA 14, DFNA 38, DFNA14, DFNA38, DFNA6, DFNA6/14/38, WFS1-Related LFSNHL, WFS1-Related Low Frequency Sensorineural Hearing Loss

 

OMIM

GeneLocusProtein
WFS14p16.1Wolframin

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium• Sequence analysis of select exons
 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Sequence analysis of the entire coding region
 

* 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.

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