October 14, 2015 - Connective Tissue Gene Tests (CTGT) is pleased to announce 25 new Sequencing and Deletion / Duplication tests.

New Tests
Ablepharon-macrostomia syndrome TWIST2
Sanger
Del Dup
Alagille syndrome, ATP8B1 related ATP8B1
Del Dup
NGS
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps COL4A1
Del Dup
NGS
Barber-Say syndrome TWIST2
Sanger
Del Dup
Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Glass syndrome SATB2
Del Dup
NGS
Gnathodiaphyseal dysplasia ANO5
Del Dup
NGS
Loeys-Dietz syndrome NGS panel TGFB3, SMAD3, TGFB2, TGFBR1, TGFBR2
Del Dup
NGS
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Del Dup
NGS
Microcephaly-capillary malformation syndrome STAMBP
Del Dup
NGS
Neu-Laxova syndrome 1 PHGDH
Del Dup
NGS
Neu-Laxova syndrome 2 PSAT1
Del Dup
NGS
Neu-Laxova syndrome NGS panel PHGDH, PSAT1
Del Dup
NGS
Osteogenesis imperfecta, type XVII SPARC
Sanger
Del Dup
Phosphoglycerate dehydrogenase deficiency PHGDH
Del Dup
NGS
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
NGS
Porencephaly 1 COL4A1
Del Dup
NGS
Porencephaly 2 COL4A2
Del Dup
NGS
Porencephaly NGS panel COL4A1, COL4A2
Del Dup
NGS
Postaxial acrofacial dysostosis DHODH
Del Dup
NGS
Spondyloocular syndrome XYLT2
Del Dup
NGS
Terminal osseous dysplasia FLNA
Del Dup
NGS
Zimmermann-Laband syndrome 1 KCNH1
Del Dup
NGS
Zimmermann-Laband syndrome 2 ATP6V1B2
Del Dup
NGS
Zimmermann-Laband syndrome NGS panel ATP6V1B2, KCNH1
Del Dup
NGS

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