Disorders


 

Familial Horizontal Gaze Palsy with Progressive Scoliosis


Synonym(s): HGPPS

 

OMIM

GeneLocusProtein
ROBO311q24Roundabout homolog 3

Laboratory Test Method Prenatal Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of the entire coding region
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• 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.

Loading...