Disorders


 

Brachydactyly Type A2


Synonym(s): BDA2

 

OMIM

GeneLocusProtein
GDF520q11.2Growth/differentiation factor 5

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland• 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
 

* 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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