MBL2

OMIMHGNC

Synonym(s): COLEC1, MBL

Locus: 10q21.1

Protein: Mannose binding lectin

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (2)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (5)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (1)
Carrier (2)
Lab Location
USA(3)
Spain(1)
Portugal(1)
Czech Republic(1)
Germany(2)
 
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
TAT: 4-6 weeks
price: contact lab
Combined Immunodeficiencies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
MBL2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Mannose-binding protein deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany