Disorders


 

Hereditary Multiple Osteochondromatosis, Type II


Synonym(s): Hereditary Multiple Exostoses, Type II

 

OMIM

GeneLocusProtein
EXT211p12-p11Exostosin-2

Laboratory Test Method Prenatal Carrier *
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
 
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Sequence analysis of the entire coding region
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium• Sequence analysis of the entire coding region
• Linkage analysis
• FISH-metaphase
• Deletion/duplication analysis
 
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, 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.

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