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 (12)
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 (8)
Prenatal/Carrier
Prenatal (8)
Carrier (8)
Lab Location
USA(6)
Spain(4)
Portugal(1)
Germany(1)


Test
TAT: 2-3 weeks
price: $1,570.00
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: $680.00
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: $990.00
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: $1,200.00
Three M syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $800.00
Three M syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,900.00
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