Disorders

Familial Erythrocytosis 1

Synonym(s): Autosomal Dominant Benign Erythrocytosis, ECYT1, PFCP, Primary Familial and Congenital Polycythemia

Gene	Locus	Protein
EPOR	19p13.3-p13.2	Erythropoietin receptor

Laboratory	Test Method	Prenatal	Carrier *
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• 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.