Disorders

CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction

Synonym(s): Congenital Pulmonary Alveolar Proteinosis 4, Pulmonary Surfactant Metabolism Dysfunction 4

Gene	Locus	Protein
CSF2RA	Xp22.32 and Yp11.3	Granulocyte-macrophage colony-stimulating factor receptor subunit alpha

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• 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.