Disorders

SLC40A1-Related Hereditary Hemochromatosis

Synonym(s): HFE4, Type 4 Hereditary Hemochromatosis

Gene	Locus	Protein
SLC40A1	2q32	Solute carrier family 40 member 1

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Institute of Predictive and Personalized Medicine of Cancer, Advanced Genetic Diagnostic Unit for Rare Iron Metabolism Disorders (UDGAEMH) - Barcelona, Spain
InVitae Corporation - San Francisco, CA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany

^* 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.