Disorders


 

MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts


 

OMIM

GeneLocusProtein
MLC122q13.33Membrane protein MLC1

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Sequence analysis of the entire coding region
• Targeted mutation analysis
Vrije Universiteit Medical Center, Laboratory for DNA and Protein Diagnostics - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication 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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