3MC Syndrome 1

 

OMIM

GeneLocusProtein
MASP13q27.3Mannan-binding lectin serine protease 1 heavy chain
Test Type
Molecular (9)
Multi-Gene Panel (4)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (4)
Prenatal/Carrier
Carrier (4)
Lab Location
Spain(2)
USA(3)
Portugal(2)
Germany(2)


Test
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: 3-4 weeks
price: contact lab
Expanded Hearing Loss Panel, Deletion/Duplication (53 Genes)
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Expanded Hearing Loss Panel, Sequencing (56 Genes)
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
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
Craniofacial-ulnar-renal syndrome (sequence analysis of MASP1 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
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
3MC Syndrome Type 1, Sequencing MASP1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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