3-M Syndrome, OBSL1-Related

Synonym(s): 3-M Syndrome 2, 3M2, Three M Syndrome 2

 

OMIMRelated Disorders

GeneLocusProtein
OBSL12q35Obscurin-like protein 1
Test Type
Molecular (13)
Multi-Gene Panel (5)
Multi-Method Panel (5)
Test Method
Del/Dup (CNV) (5)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (9)
Carrier (9)
Lab Location
USA(7)
Spain(4)
Portugal(1)
Germany(1)


Test
TAT: 2-3 weeks
price: contact lab
Three M syndrome 2 (3M2)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Three M syndrome 2 (3M2)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 7-8 weeks
price: contact lab
NGS and Sanger sequencing of the OBSL1 gene
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 3 genes: CUL7, OBSL1, PCNT.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2-3 weeks
price: contact lab
Three M syndrome 2 (3M2)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
3-M syndrome 2 (sequence analysis of OBSL1 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
3M Syndrome Type 2, Sequencing OBSL1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
3M Syndrome, Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
Three M syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Three M syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Three M syndrome NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: ~2 weeks
price: contact lab
Three M syndrome type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $2,190.00
Skeletal Disorders and Joint Problems Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA