Disorders


 

Craniometaphyseal Dysplasia, Autosomal Dominant


Synonym(s): CMDJ, Craniometaphyseal Dysplasia, Jackson Type

 

GeneReviewOMIM

GeneLocusProtein
ANKH5p15.2Progressive ankylosis protein homolog

Laboratory Test Method Prenatal Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 

* 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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