Disorders


 

Focal Dermal Hypoplasia


Synonym(s): FDH, FODH, Goltz Syndrome, Goltz-Gorlin Syndrome

 

GeneReviewOMIM

GeneLocusProtein
PORCNXp11.23Probable protein-cysteine N-palmitoyltransferase porcupine

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Connective Tissue Gene Tests - Allentown, PA, USA  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* 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.

Loading...