June 26, 2014 - Connective Tissue Gene Tests (CTGT) is pleased to announce 21 new Sequencing and Deletion / Duplication tests.
Acromesomelic dysplasia, Hunter-Thompson type | GDF5 | |
Anauxetic dysplasia Deletion / Duplication testing added! |
RMRP | |
Cartilage-hair hypoplasia Deletion / Duplication testing added! |
RMRP | |
Chondrodysplasia with joint dislocations, GPAPP type | IMPAD1 | |
Chondrodysplasia, Grebe type | GDF5 | |
Desbuquois dysplasia 2 | XYLT1 | |
Desbuquois dysplasia core NGS panel | CSGALNACT1, IMPAD1, CANT1, XYLT1 | |
Fibular hypoplasia and complex brachydactyly | GDF5 | |
Meier-Gorlin syndrome 1 | ORC1 | |
Meier-Gorlin syndrome 2 | ORC4 | |
Meier-Gorlin syndrome 3 | ORC6 | |
Meier-Gorlin syndrome 4 | CDT1 | |
Meier-Gorlin syndrome 5 | CDC6 | |
Meier-Gorlin syndrome NGS panel | CDC45, GMNN, MCM5, CDC6, CDT1, ORC1, ORC4, ORC6 | |
Metaphyseal dysplasia without hypotrichosis Deletion / Duplication testing added! |
RMRP | |
Osteogenesis imperfecta, PLS3 related | PLS3 | |
Osteogenesis imperfecta, type XVI | CREB3L1 | |
Pycnodysostosis | CTSK | |
Roberts syndrome & SC phocomelia syndrome | ESCO2 | |
Spondylo-megaepiphyseal-metaphyseal dysplasia | NKX3-2 |