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

New Tests
Cornelia de Lange syndrome 1 NIPBL
Del Dup
NGS
Cornelia de Lange syndrome NGS panel HDAC8, NIPBL, RAD21, SMC1A, SMC3
Del Dup
NGS
Distal arthrogryposes NGS panel ECEL1, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, FBN2
Del Dup
NGS
Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
Del Dup
NGS
Epidermolysis bullosa NGS panel CDSN, CHST8, COL17A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, SERPINB8, TGM5, COL7A1
Del Dup
NGS
Knobloch syndrome 1 COL18A1
Del Dup
NGS
Mitral valve prolapse 2 DCHS1
NGS
Del Dup
Van Maldergem syndrome 1 DCHS1
Del Dup
NGS
Wagner vitreoretinopathy VCAN
Del Dup
NGS
Wilson disease ATP7B
Del Dup
NGS

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