Nov 02, 2014 - Connective Tissue Gene Tests (CTGT) is pleased to announce 2 new NGS panels, 4 more comprehensive NGS panels and 28 new Sequencing / Deletion / Duplication tests.

New Tests
Adams-Oliver syndrome 5 NOTCH1
Del Dup
NGS
Adams-Oliver syndrome NGS panel DLL4, NOTCH1, DOCK6, EOGT, ARHGAP31, RBPJ
Del Dup
NGS
Amelogenesis imperfecta, type IV DLX3
Sanger
Del Dup
Aortic valve disease 1 NOTCH1
Del Dup
NGS
Bent bone dysplasia syndrome FGFR2
Sanger
Del Dup
NGS
Craniofrontonasal syndrome EFNB1
Sanger
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, CHST14, DSE, FKBP14, FLNA, ATP7A, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, CHST14, DSE, FKBP14, ATP7A, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1 B4GALT7
Sanger
Del Dup
Epidermolysis bullosa NGS panel COL17A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5, COL7A1
Del Dup
NGS
Frontonasal dysplasia 1 ALX3
Del Dup
Sanger
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome ALX1, ALX3, ALX4, EFNB1
Sanger
Del Dup
Frontonasal dysplasia 2 ALX4
Sanger
Del Dup
Frontonasal dysplasia 3 ALX1
Sanger
Del Dup
KBG syndrome ANKRD11
Sanger
Del Dup
Kenny-Caffey syndrome, type 1 TBCE
Sanger
Del Dup
Kenny-Caffey syndrome, type 1 / 2 FAM111A, TBCE
Sanger
Del Dup
Klippel-Feil Syndrome 1 GDF6
Sanger
Del Dup
Klippel-Feil syndrome 2 MEOX1
Sanger
Del Dup
Klippel-Feil syndrome 3 GDF3
Sanger
Del Dup
Klippel-Feil syndrome NGS panel GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
Del Dup
NGS
Knobloch syndrome 1 COL18A1
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed ACTA2, FOXE3, LOX, MAT2A, MED12, MFAP5, NOTCH1, TGFB3, FBN1, FBN2, FLNA, CBS, COL5A2, COL5A1, COL3A1, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
Del Dup
NGS
Marshall-Smith syndrome NFIX
Del Dup
Sanger
Noonan spectrum disorder NGS panel A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Pulmonary hypertension, primary, 1 BMPR2
NGS
Del Dup
Pulmonary venoocclusive disease 1, autosomal dominant BMPR2
Del Dup
NGS
Simpson-Golabi-Behmel syndrome GPC3
Sanger
Del Dup
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Sotos syndrome 1 NSD1
Del Dup
NGS
Sotos syndrome 2 NFIX
Sanger
Del Dup
Trichodentoosseus syndrome DLX3
Sanger
Del Dup
Weaver syndrome EZH2
Del Dup
NGS

Search Tests

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