14 New or updated NGS panels and tests | Connective Tissue Gene Tests

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

New 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	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

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