Cornelia de Lange syndrome 1 NIPBL
Del Dup
NGS
Cornelia de Lange syndrome NGS panel HDAC8, NIPBL, RAD21, SMC1A, SMC3
Del Dup
NGS
Cutis laxa, autosomal recessive IIIA ALDH18A1
Del Dup
NGS
Deletion / Duplication test (Any of the NGS panel genes)
Del Dup
Distal arthrogryposes NGS panel ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
Del Dup
NGS
Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
Del Dup
NGS
Epidermolysis bullosa NGS panel COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5
Del Dup
NGS
Knobloch syndrome 1 COL18A1
Del Dup
NGS
Mitral valve prolapse 2 DCHS1
Del Dup
NGS
Steel syndrome COL27A1
Sanger
Van Maldergem syndrome 1 DCHS1
Del Dup
NGS
Wagner vitreoretinopathy VCAN
Del Dup
NGS
Wilson disease ATP7B
Del Dup
NGS

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