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 (2)
Multi-Gene Panel (1)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (1)
Prenatal/Carrier
Prenatal (2)
Carrier (2)
Lab Location
Finland(1)
Germany(1)


Test
TAT: 3-4 weeks
price: contact lab
3-M Syndrome / Primordial Dwarfism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
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