June 26, 2014 - Connective Tissue Gene Tests (CTGT) is pleased to announce 21 new Sequencing and Deletion / Duplication tests.

New Tests
Acromesomelic dysplasia, Hunter-Thompson type GDF5
Del Dup
NGS
Anauxetic dysplasia
Deletion / Duplication testing added!
RMRP
Del Dup
Sanger
Cartilage-hair hypoplasia
Deletion / Duplication testing added!
RMRP
Sanger
Del Dup
Chondrodysplasia with joint dislocations, GPAPP type IMPAD1
Sanger
Del Dup
Chondrodysplasia, Grebe type GDF5
Del Dup
NGS
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Desbuquois dysplasia core NGS panel CSGALNACT1, IMPAD1, CANT1, XYLT1
Del Dup
NGS
Fibular hypoplasia and complex brachydactyly GDF5
Del Dup
NGS
Meier-Gorlin syndrome 1 ORC1
NGS
Del Dup
Meier-Gorlin syndrome 2 ORC4
Del Dup
NGS
Meier-Gorlin syndrome 3 ORC6
Del Dup
NGS
Meier-Gorlin syndrome 4 CDT1
Del Dup
NGS
Meier-Gorlin syndrome 5 CDC6
Del Dup
NGS
Meier-Gorlin syndrome NGS panel CDC45, GMNN, MCM5, CDC6, CDT1, ORC1, ORC4, ORC6
Del Dup
NGS
Metaphyseal dysplasia without hypotrichosis
Deletion / Duplication testing added!
RMRP
Sanger
Del Dup
Osteogenesis imperfecta, PLS3 related PLS3
Del Dup
NGS
Osteogenesis imperfecta, type XVI CREB3L1
Del Dup
NGS
Pycnodysostosis CTSK
Del Dup
Sanger
Roberts syndrome & SC phocomelia syndrome ESCO2
Del Dup
NGS
Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2
Sanger
Del Dup

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