3MC Syndrome 2

 

OMIM

GeneLocusProtein
COLEC112p25.3Collectin-11
Test Type
Molecular (4)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (4)
Prenatal/Carrier
Prenatal (1)
Carrier (1)
Lab Location
Portugal(1)
Germany(2)
Spain(1)


Test
Craniofacial-ulnar-renal syndrome (sequence analysis of COLEC11 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing COLEC11
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
3MC Syndrome Type 2, Sequencing COLEC11 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
3MC syndrome type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany