Disorders

MASS Syndrome

Gene	Locus	Protein
FBN1	15q21.1	Fibrillin-1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Health in Code S.L. - A Coruña, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Mayo Clinic - Minnesota, Cardiovascular Laboratory Medicine Genetics - Rochester, MN, 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.