Disorders

Hereditary Multiple Osteochondromatosis, Type I

Synonym(s): Hereditary Multiple Exostoses, Type I

Gene	Locus	Protein
EXT1	8q24.11	Exostosin-1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada	• Linkage analysis
CeGaT GmbH - Tuebingen, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Linkage analysis
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium	• Linkage analysis • FISH-metaphase
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, 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.