10 NEW or updated NGS tests | Connective Tissue Gene Tests

July 26, 2016 - Connective Tissue Gene Tests (CTGT) is pleased to announce 10 New or updated NGS panels

Cornelia de Lange syndrome 1	NIPBL	Del Dup NGS
Cornelia de Lange syndrome and related disorders NGS panel	AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3	Del Dup NGS
Distal arthrogryposes NGS panel	ECEL1, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, FBN2	NGS Del Dup
Epidermolysis bullosa dystrophica, autosomal dominant & recessive	COL7A1	Del Dup NGS
Epidermolysis bullosa NGS panel	CAST, CDSN, CHST8, COL17A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5, COL7A1	Del Dup NGS
Knobloch syndrome 1	COL18A1	Del Dup NGS
Mitral valve prolapse 2	DCHS1	Del Dup NGS
Van Maldergem syndrome 1	DCHS1	Del Dup NGS
Wagner vitreoretinopathy	VCAN	Del Dup NGS
Wilson disease	ATP7B	Del Dup NGS