Disorders

ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction

Synonym(s): Congenital Pulmonary Alveolar Proteinosis 3, Interstitial Lung Disease Due To ABCA3 Deficiency, Pulmonary Surfactant Metabolism Dysfunction 3

OMIM

Gene	Locus	Protein
ABCA3	16p13.3	ATP-binding cassette sub-family A member 3

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of the entire coding region
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Sequence analysis of the entire coding region • Linkage analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Sequence analysis of the entire coding region
Gene Analysis Service - Berlin, Germany	• Sequence analysis of the entire coding region
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• 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.