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	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	Del Dup Sanger
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, 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	NGS 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