Disorders


 

SPTB-Related Spherocytosis


Synonym(s): Spherocytosis Type 2

 

OMIM

GeneLocusProtein
SPTB14q24.1-q24.2Spectrin beta chain, erythrocyte

Laboratory Test Method Prenatal Carrier *
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
  
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Yale University School of Medicine - Department of Pathology, Molecular Diagnostic Laboratory - New Haven, CT, 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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