November 20, 2015 - Connective Tissue Gene Tests (CTGT) is pleased to announce 30 new Sequencing and Deletion / Duplication tests.

New Tests
Basal cell nevus syndrome - PTCH1 PTCH1
Del Dup
NGS
Basal cell nevus syndrome - PTCH2 PTCH2
Del Dup
NGS
Basal cell nevus syndrome - SUFU SUFU
Sanger
Del Dup
Basal cell nevus syndrome NGS panel PTCH1, PTCH2, SUFU
NGS
Del Dup
Birt-Hogg-Dube syndrome FLCN
Sanger
Del Dup
Cantu syndrome, KCNJ8 related KCNJ8
Sanger
Del Dup
CHARGE syndrome CHD7
Del Dup
NGS
Cholestasis NGS Panel ABCB11, ABCB4, ATP8B1, TJP2
Del Dup
NGS
Cholestasis, benign recurrent intrahepatic, 1 ATP8B1
Del Dup
NGS
Cholestasis, benign recurrent intrahepatic, 2 ABCB11
Del Dup
NGS
Cholestasis, intrahepatic, of pregnancy, 1 ATP8B1
Del Dup
NGS
Cholestasis, intrahepatic, of pregnancy, 3 ABCB4
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 1 ATP8B1
NGS
Del Dup
Cholestasis, progressive familial intrahepatic, 2 ABCB11
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 3 ABCB4
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 4 TJP2
Del Dup
NGS
Orofaciodigital syndrome I OFD1
Del Dup
NGS
Pneumothorax, primary spontaneous FLCN
Sanger
Del Dup
Popliteal pterygium syndrome IRF6
Sanger
Del Dup
Popliteal pterygium syndrome, lethal type RIPK4
Sanger
Del Dup
Rubinstein-Taybi syndrome 1 CREBBP
NGS
Del Dup
Rubinstein-Taybi syndrome 2 EP300
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel CREBBP, EP300
Del Dup
NGS
Schneckenbecken dysplasia, INPPL1 related INPPL1
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Van der Woude syndrome 1 IRF6
Sanger
Del Dup
Van der Woude syndrome 1 / 2 GRHL3, IRF6
Del Dup
Sanger
Van der Woude syndrome 2 GRHL3
Sanger
Del Dup

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