Disorders


 

SDHD-Related Paraganglioma and Gastric Stromal Sarcoma


Synonym(s): SDHD-Related Carney-Stratakis Syndrome

 

OMIM

GeneLocusProtein
SDHD11q23 

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, 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.

Loading...