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
Sanger
Del Dup
Anauxetic dysplasia
Deletion / Duplication testing added!
RMRP
Sanger
Del Dup
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
Sanger
Del Dup
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
Sanger
Del Dup
Meier-Gorlin syndrome 1 ORC1
Del Dup
NGS
Meier-Gorlin syndrome 2 ORC4
Sanger
Del Dup
Meier-Gorlin syndrome 3 ORC6
Sanger
Del Dup
Meier-Gorlin syndrome 4 CDT1
Sanger
Del Dup
Meier-Gorlin syndrome 5 CDC6
Sanger
Del Dup
Meier-Gorlin syndrome NGS panel CDC45, GMNN, 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
Sanger
Del Dup
Pycnodysostosis CTSK
Sanger
Del Dup
Roberts syndrome ESCO2
Sanger
Del Dup
SC phocomelia syndrome ESCO2
Sanger
Del Dup
Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2
Sanger
Del Dup

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