July 26, 2016 - Connective Tissue Gene Tests (CTGT) is pleased to announce 10 New or updated NGS panels
Cornelia de Lange syndrome 1 | NIPBL | |
Cornelia de Lange syndrome and related disorders NGS panel | AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3 | |
Distal arthrogryposes NGS panel | ECEL1, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, FBN2 | |
Epidermolysis bullosa dystrophica, autosomal dominant & recessive | COL7A1 | |
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 | |
Knobloch syndrome 1 | COL18A1 | |
Mitral valve prolapse 2 | DCHS1 | |
Van Maldergem syndrome 1 | DCHS1 | |
Wagner vitreoretinopathy | VCAN | |
Wilson disease | ATP7B |