21 New Sequencing and Deletion / Duplication Tests Added

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	Del Dup NGS
Anauxetic dysplasia Deletion / Duplication testing added!	RMRP	Sanger Del Dup NGS
Cartilage-hair hypoplasia Deletion / Duplication testing added!	RMRP	NGS Sanger Del Dup
Chondrodysplasia with joint dislocations, GPAPP type	IMPAD1	Sanger Del Dup NGS
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	Del Dup NGS
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 NGS
Osteogenesis imperfecta, PLS3 related	PLS3	Del Dup NGS
Osteogenesis imperfecta, type XVI	CREB3L1	Del Dup NGS
Pycnodysostosis	CTSK	Del Dup NGS Sanger
Roberts syndrome & SC phocomelia syndrome	ESCO2	Del Dup NGS
Spondylo-megaepiphyseal-metaphyseal dysplasia	NKX3-2	Sanger Del Dup NGS