Disorders


 

Ehlers-Danlos Syndrome, Musculocontractural Type


Synonym(s): Adducted Thumb-Clubfoot Syndrome, ATCS, Distal Arthrogryposis with Peculiar Facies and Hydronephrosis, Dundar Syndrome, Ehlers-Danlos Syndrome, Type VIB

 

OMIM

GeneLocusProtein
CHST1415q15.1Carbohydrate sulfotransferase 14

Laboratory Test Method Prenatal Carrier *
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Sequence analysis of the entire coding region
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland• Sequence analysis of the entire coding region
 
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, 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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