3-M Syndrome

Synonym(s): 3-M slender bone nanism, 3M Syndrome, Dolichospondylic Dysplasia, Three M Syndrome

 

GeneReviewOMIMRelated Disorders

GeneLocusProtein
OBSL12q35Obscurin-like protein 1
Test Type
Molecular (4)
Multi-Gene Panel (3)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (3)
Carrier (3)
Lab Location
Germany(1)
USA(2)
Finland(1)


Test
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: 6-8 weeks
price: contact lab
3-M Syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: contact lab
3-M Syndrome / Primordial Dwarfism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
3-M Syndrome / Primordial Dwarfism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA