July 12, 2018- Connective Tissue Gene Tests (CTGT) is pleased to announce 22 New or updated NGS panels and tests.

Bartter syndrome and related disorders NGS panel BSND, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3, CASR
Del Dup
NGS
CADASIL NGS panel HTRA1, NOTCH3
Del Dup
NGS
Cerebral small vessel disease NGS panel COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1
Del Dup
NGS
Charcot-Marie-Tooth disease NGS panel AARS, AIFM1, ATP1A1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, YARS, TRPV4
Del Dup
NGS
Cleft lip, cleft palate and related disorders NGS panel BMP4, FOXE1, GRHL3, IRF6, NECTIN1, SATB2, SUMO1, TBX22, TGDS, TP63, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1, MSX1
Del Dup
NGS
Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FREM1, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SLC25A24, TCF12, ZIC1, FGFR3, FGFR2, FGFR1, IFT43, IFT122, GLI3, SKI, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35
Del Dup
NGS
Fabry disease GLA
Del Dup
NGS
Hyperuricemic nephropathy, familial juvenile NGS panel REN, SEC61A1, UMOD
Del Dup
NGS
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, C5orf42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423, TTC21B
Del Dup
NGS
Keratoconus and related disorders NGS panel MIR184, VSX1, PRDM5, ZNF469
Del Dup
NGS
Lissencephaly and related disorders NGS panel ACTB, ACTG1, ADGRG1, ARX, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, ATP6V0A2
Del Dup
NGS
Lissencephaly core NGS panel ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
Del Dup
NGS
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel AKT3, CCND2, PIK3R2
Del Dup
NGS
Nephronophthisis and related disorders NGS panel AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, XPNPEP3, ZNF423, TTC21B, WDR19
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FN1, INF2, ITGA3, ITGB4, KANK2, LAMB2, MAGI2, MEFV, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, WDR73, WT1, COL4A5, LMX1B, TTC21B
Del Dup
NGS
Overgrowth syndrome NGS panel DNMT3A, EED, EZH2, GPC3, NFIX, NSD1, OFD1, PDGFRB, PIGA, SETD2, FBN1
Del Dup
NGS
Polycystic kidney disease and related disorders NGS panel ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, MUC1, NPHP3, OFD1, PKD1, PKD2, PKHD1, SEC61A1, TMEM231, TSC1, TSC2, UMOD, ZNF423, LRP5, NOTCH2
Del Dup
NGS
Popliteal pterygium syndrome NGS panel IRF6, RIPK4
Del Dup
NGS
Renal tubular dysgenesis NGS panel ACE, AGT, AGTR1, REN
Del Dup
NGS
Skraban-Deardorff syndrome WDR26
Del Dup
NGS
Sotos syndrome and related disorders NGS panel APC2, EZH2, NFIX, NSD1
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel DHODH, EDNRA, EFTUD2, POLR1A, SF3B4, TXNL4A, POLR1C, POLR1D, TCOF1
Del Dup
NGS

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