MBL2
OMIMHGNC
Synonym(s): COLEC1, MBL
Locus: 10q21.1
Protein: Mannose binding lectin
Disorders
Tests
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Mannose-Binding Protein Deficiency (MBL2) Sequencing Test method(s): ◦ Sequencing, Capillary (Sanger) All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA |
Mannose-Binding Protein Deficiency Test method(s): ◦ Genotyping (Microarray, Beads, etc.) Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic |
Primary Immunodeficiency Gene Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA |
MBL (Mannose Binding Lectin) Deficiency , Sequencing MBL2 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Mannose-binding protein deficiency (sequence analysis of MBL2 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Combined Immunodeficiencies Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
MBL2 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Mannose-binding protein deficiency method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |