Disorders


 

TWIST1-Related Craniosynostosis


Synonym(s): Craniosynostosis, Type 1, Craniosynostosis, Type I, CRS1

 

OMIM

GeneLocusProtein
TWIST17p21 

Laboratory Test Method Prenatal Carrier *
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, 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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