Disorders


 

Brown-Vialetto-Van Laere Syndrome


Synonym(s): BVVLS, Pontobulbar Palsy with Deafness, Progressive Bulbar Palsy with Sensorineural Deafness

 

OMIM

GeneLocusProtein
SLC52A320p13Uncharacterized protein C20orf54

Laboratory Test Method Prenatal Carrier *
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis

* 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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