Benign chronic pemphigus ATP2C1
Del Dup
NGS
Cerebrooculofacioskeletal syndrome NGS panel ERCC1, ERCC2, ERCC5, ERCC6
Del Dup
NGS
Cockayne syndrome NGS panel ERCC6, ERCC8
Del Dup
NGS
Darier-White disease ATP2A2
Del Dup
NGS
Erythrokeratodermias and related disorders NGS panel DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR
Del Dup
NGS
Peeling skin syndrome NGS panel CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24
Del Dup
NGS
Restrictive dermopathy, lethal NGS panel LMNA, ZMPSTE24
Del Dup
NGS
Trichothiodystrophy NGS panel ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A
Del Dup
NGS
Xeroderma pigmentosum NGS panel DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Del Dup
NGS

Search Tests

TIP: enter a partial disorder name or gene to widen your search