May 31, 2018- Connective Tissue Gene Tests (CTGT) is pleased to announce 14 New or updated NGS panels and tests.
Benign chronic pemphigus | ATP2C1 | |
Cerebrooculofacioskeletal syndrome NGS panel | ERCC1, ERCC2, ERCC5, ERCC6 | |
Cockayne syndrome NGS panel | ERCC6, ERCC8 | |
Darier-White disease | ATP2A2 | |
Ectodermal dysplasia NGS panel | EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, KRT74, KRT85, MSX1 | |
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 | |
Erythrokeratodermias and related disorders NGS panel | DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR | |
Hypotrichosis NGS panel | APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE | |
Ichthyosis NGS panel | ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5 | |
Peeling skin syndrome NGS panel | CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5 | |
Progeroid syndromes and related disorders NGS panel | AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, LMNA, PDGFRB, POLD1, RECQL4, SLC25A24, WRN, ZMPSTE24, FBN1, PYCR1 | |
Restrictive dermopathy, lethal NGS panel | LMNA, ZMPSTE24 | |
Trichothiodystrophy NGS panel | ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A | |
Xeroderma pigmentosum NGS panel | DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC |