May 31, 2018- Connective Tissue Gene Tests (CTGT) is pleased to announce 14 New or updated NGS panels and tests.   

  

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
Ectodermal dysplasia NGS panel EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, KRT74, KRT85, MSX1
Del Dup
NGS
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
Del Dup
NGS
Erythrokeratodermias and related disorders NGS panel DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR
Del Dup
NGS
Hypotrichosis NGS panel APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE
Del Dup
NGS
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
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, LMNA, PDGFRB, POLD1, RECQL4, SLC25A24, WRN, ZMPSTE24, FBN1, PYCR1
Del Dup
NGS
Restrictive dermopathy, lethal NGS panel LMNA, ZMPSTE24
NGS
Del Dup
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

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