Disorders


 

Mucolipidosis IV


Synonym(s): ML IV, MLIV

 

GeneReviewOMIM

GeneLocusProtein
MCOLN119p13.2Mucolipin-1

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Targeted mutation analysis
 
Center for Human Genetics, Inc - Cambridge, MA, USA• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Targeted mutation analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
Genetrack Biolabs Inc., Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
LabCorp, Molecular Biology - Research Triangle Park, NC, USA• Targeted mutation analysis
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Targeted mutation analysis
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA• Targeted mutation analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel• Targeted mutation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• Targeted mutation analysis

* 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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