Disorders

SFTPC-Related Pulmonary Surfactant Metabolism Dysfunction

Synonym(s): Congenital Pulmonary Alveolar Proteinosis 2, Desquamative Interstitial Pneumonitis Due To Surfactant Protein C Deficiency, Interstitial Lung Disease Due To Surfactant Protein C Deficiency

OMIM

Gene	Locus	Protein
SFTPC	8p21	Pulmonary surfactant-associated protein C

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
Gene Analysis Service - Berlin, Germany
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, 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.