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
Sanger
Del Dup
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
NGS
Del Dup
Microcephaly-capillary malformation syndrome STAMBP
Sanger
Del Dup
Neu-Laxova syndrome 1 PHGDH
Sanger
Del Dup
Neu-Laxova syndrome 1 / 2 PHGDH, PSAT1
Sanger
Del Dup
Neu-Laxova syndrome 2 PSAT1
Sanger
Del Dup
Osteogenesis imperfecta, type XVII SPARC
Sanger
Del Dup
Phosphoglycerate dehydrogenase deficiency PHGDH
Sanger
Del Dup
Phosphoserine aminotransferase deficiency PSAT1
Sanger
Del Dup
Porencephaly 1 COL4A1
NGS
Del Dup
Porencephaly 2 COL4A2
Del Dup
NGS
Porencephaly NGS panel COL4A1, COL4A2
Del Dup
NGS
Postaxial acrofacial dysostosis DHODH
Sanger
Del Dup
Spondyloocular syndrome XYLT2
Sanger
Del Dup
Terminal osseous dysplasia FLNA
NGS
Zimmermann-Laband syndrome 1 KCNH1
Sanger
Del Dup
Zimmermann-Laband syndrome 1 / 2 ATP6V1B2, KCNH1
Sanger
Del Dup
Zimmermann-Laband syndrome 2 ATP6V1B2
Sanger
Del Dup

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