Disorders


 

Klippel-Feil Syndrome


 

OMIM

GeneLocusProtein
GDF68q22.1Growth/differentiation factor 6

Laboratory Test Method Prenatal Carrier *
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland• 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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