MASP1

Synonym(s): MASP, CRARF, PRSS5

Locus: 3q27.3

Protein: Mannan-binding lectin serine protease 1 heavy chain

Disorders

3MC Syndrome 1

Tests


TAT: 12-13 weeks price: contact lab Hearing Loss: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 7-8 weeks price: contact lab NGS of 3 genes: COLEC11, MASP1, PAX3. method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks price: contact lab Sanger sequencing of the MASP1 gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 10-12 weeks price: contact lab Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: contact lab price: contact lab Craniofacial-ulnar-renal syndrome (sequence analysis of MASP1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: contact lab price: contact lab Craniosynostosis (NGS panel for 30 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: contact lab Single gene testing MASP1 method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab 3MC Syndrome Type 1, Sequencing MASP1 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks price: contact lab Complement Deficiencies Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks price: contact lab MASP1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks price: contact lab 3MC syndrome type 1 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks price: contact lab Complement System Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Craniosynostosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Complement System Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Craniosynostosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA