June 16, 2016 - Connective Tissue Gene Tests (CTGT) is pleased to announce 52 new NGS tests & panels and 16 new Sanger sequencing and Deletion / Duplication tests.

New Tests
Adams-Oliver syndrome 2 DOCK6
Del Dup
NGS
Adams-Oliver syndrome NGS panel DLL4, NOTCH1, DOCK6, EOGT, ARHGAP31, RBPJ
Del Dup
NGS
Alagille syndrome NGS panel ATP8B1, JAG1, NOTCH2
Del Dup
NGS
Alagille syndrome, ATP8B1 related ATP8B1
NGS
Del Dup
Alpha-1-antitrypsin deficiency SERPINA1
Sanger
Del Dup
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps COL4A1
Del Dup
NGS
Basal cell nevus syndrome - PTCH1 PTCH1
Del Dup
NGS
Basal cell nevus syndrome - PTCH2 PTCH2
Del Dup
NGS
Basal cell nevus syndrome NGS panel PTCH1, PTCH2, SUFU
Del Dup
NGS
Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Cantu syndrome ABCC9
Del Dup
NGS
Cantu syndrome NGS panel ABCC9, KCNJ8
Del Dup
NGS
Capillary malformation arteriovenous malformation RASA1
Del Dup
NGS
Cerebral cavernous malformations NGS panel CCM2, KRIT1, PDCD10
NGS
Del Dup
Cholestasis NGS Panel ABCB11, ABCB4, ATP8B1, TJP2
Del Dup
NGS
Cholestasis, benign recurrent intrahepatic, 1 ATP8B1
Del Dup
NGS
Cholestasis, benign recurrent intrahepatic, 2 ABCB11
Del Dup
NGS
Cholestasis, intrahepatic, of pregnancy, 1 ATP8B1
NGS
Del Dup
Cholestasis, intrahepatic, of pregnancy, 3 ABCB4
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 1 ATP8B1
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 2 ABCB11
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 3 ABCB4
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 4 TJP2
Del Dup
NGS
Cutaneomucosal venous malformations TEK
Del Dup
NGS
Cutis laxa NGS panel ALDH18A1, ATP6V1A, ATP6V1E1, FBLN5, EFEMP2, ELN, ATP6V0A2, LTBP4, PYCR1
Del Dup
NGS
Cutis laxa, autosomal recessive IC LTBP4
Del Dup
NGS
Cutis laxa, autosomal recessive IIA ATP6V0A2
NGS
Del Dup
Cutis laxa, autosomal recessive IIIA ALDH18A1
Del Dup
NGS
Desbuquois dysplasia core NGS panel CSGALNACT1, IMPAD1, CANT1, XYLT1
Del Dup
NGS
Ectopia lentis NGS panel ADAMTSL4, FBN1
Del Dup
NGS
Ectopia lentis, isolated, autosomal recessive ADAMTSL4
Del Dup
NGS
Exudative vitreoretinopathy NGS panel CAPN5, KIF11, ZNF408, FZD4, LRP5, NDP, TSPAN12
Del Dup
NGS
Frontonasal dysplasia, SIX2 related SIX2
Sanger
Del Dup
Glomuvenous malformations GLMN
Del Dup
NGS
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel GLMN, TEK
Del Dup
NGS
Hereditary Hemorrhagic telangiectasia NGS panel ACVRL1, ENG, GDF2, RASA1, SMAD4
Del Dup
NGS
Hyperphosphatemic familial tumoral calcinosis - GALNT3 GALNT3
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis NGS panel GALNT3, KL, FGF23
Del Dup
NGS
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 VCP
Del Dup
NGS
Klippel-Feil syndrome NGS panel GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
NGS
Del Dup
Lysosomal acid lipase deficiency LIPA
Sanger
Del Dup
Mandibulofacial dysostosis and related disorders NGS panel DHODH, EFTUD2, POLR1A, SF3B4, TXNL4A, POLR1C, POLR1D, TCOF1
Del Dup
NGS
Meier-Gorlin syndrome NGS panel CDC45, GMNN, MCM5, CDC6, CDT1, ORC1, ORC4, ORC6
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel ATR, ATRIP, CDC45, CENPJ, CEP152, CEP63, DNA2, DONSON, GMNN, LIG4, NIN, PCNT, RBBP8, RNU4ATAC, TRAIP, XRCC4, CDC6, CDT1, ORC1, ORC4, ORC6
Del Dup
NGS
Neutropenia, severe congenital, X-linked WAS
Sanger
Del Dup
NKX2-5 related heart malformations NKX2-5
Sanger
Del Dup
Oculodentodigital dysplasia GJA1
Sanger
Del Dup
Oligodontia - Selective tooth agenesis NGS panel AXIN2, EDA, LRP6, LTBP3, PAX9, PTH1R, WNT10A, WNT10B, MSX1
Del Dup
NGS
Paget disease of bone 3 SQSTM1
Del Dup
NGS
Paget disease of bone 6 ZNF687
Del Dup
NGS
Paget disease of bone and related disorders NGS panel HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11B, VCP, ZNF687, TNFRSF11A
NGS
Del Dup
Porencephaly 1 COL4A1
Del Dup
NGS
Porencephaly 2 COL4A2
Del Dup
NGS
Porencephaly NGS panel COL4A1, COL4A2
Del Dup
NGS
Pulmonary hypertension NGS panel ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, FOXF1, KCNK3, SMAD9, ENG
Del Dup
NGS
Rickets, hypophosphatemic, X-linked dominant PHEX
Del Dup
NGS
Rubinstein-Taybi syndrome 1 CREBBP
NGS
Del Dup
Rubinstein-Taybi syndrome 2 EP300
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel CREBBP, EP300
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, PIGA related PIGA
Sanger
Del Dup
Spondylocostal dysostosis NGS panel RIPPLY2, DLL3, HES7, LFNG, MESP2, TBX6
Del Dup
NGS
Three M syndrome NGS panel CUL7, CCDC8, OBSL1
NGS
Del Dup
Thrombocytopenia 1 WAS
Del Dup
Sanger
Vascular malformations NGS panel ACVRL1, BMPR2, CAV1, EIF2AK4, ELMO2, FOXF1, GATA2, KCNK3, PTEN, SMAD9, ENG, GDF2, GLMN, CCM2, KRIT1, PDCD10, RASA1, SMAD4, TEK
Del Dup
NGS
Weill-Marchesani syndrome NGS panel ADAMTS10, ADAMTS17, FBN1, LTBP2
Del Dup
NGS
Wiskott-Aldrich syndrome WAS
Sanger
Del Dup
Wolman disease LIPA
Sanger
Del Dup

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