Disorders


 

C Syndrome


Synonym(s): Opitz Trigonocephaly Syndrome

 

OMIM

GeneLocusProtein
CD963p13-q13.2T-cell surface protein tactile

Laboratory Test Method Prenatal Carrier *
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• 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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