Disorders

Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome

Synonym(s): JP/HHT Syndrome, JPHT

Gene	Locus	Protein
SMAD4	18q21.1	Bone morphogenetic protein receptor type-1A

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland
University of Goettingen, Institute of Human Genetics - Goettingen, Germany
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, 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.