MASP2
OMIMHGNC
Synonym(s): MASP1P1
Locus: 1p36.22
Protein: Mannan-binding lectin serine protease 2
Disorders
Tests
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Complement Deficiencies Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
MASP2 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Complement deficiencies � all subtypes (NGS panel of 33 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Complement deficiencies �High susceptibility to infections: recurrent pyogenic and Neisserial infections (NGS panel of 15 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Complement deficiencies � recurrent pyogenic infections (NGS panel of 6 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Complement System Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Complement System Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |