November 29, 2017- Connective Tissue Gene Tests (CTGT) is pleased to announce 29 New or updated NGS panels. NEW PRICING is available for most of our panels and tests.
Prices can be found at Price and CPT Codes.
New Tests
| Atrial fibrillation NGS panel | ABCC9, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5 | |
| Atrioventricular block NGS Panel | DES, EMD, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4 | |
| Brugada syndrome and related disorders NGS panel | ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4 | |
| Cardiac channelopathy NGS panel | ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4 | |
| Catecholaminergic polymorphic ventricular tachycardia NGS panel | ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN | |
| Cleft lip, cleft palate and related disorders NGS panel | FOXE1, GRHL3, IRF6, NECTIN1, SATB2, TBX22, TGDS, TP63, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL2A1 | |
| Congenital contracture syndrome extended NGS panel | ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24, FBN2 | |
| Cutis laxa NGS panel | ALDH18A1, ATP6V1A, ATP6V1E1, FBLN5, EFEMP2, ELN, ATP6V0A2, LTBP4, PYCR1 | |
| Diamond-Blackfan anemia NGS panel | GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2 | |
| Dyggve-Melchior-Clausen disease NGS panel | RAB33B, DYM | |
| Ectodermal dysplasia NGS panel | EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KRT74, KRT85, MSX1 | |
| Frontometaphyseal dysplasia NGS panel | MAP3K7, TAB2, FLNA | |
| Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel | ALX1, ALX3, ALX4, EFNB1, SIX2 | |
| Hypotrichosis NGS panel | APCDD1, CDSN, DSG4, HR, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE | |
| Ichthyosis NGS panel | ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5 | |
| Lethal congenital contracture syndrome and related disorders NGS Panel | ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24 | |
| Limb girdle muscular dystrophy NGS panel | ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN | |
| Long QT syndrome NGS panel | AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN | |
| Multiple pterygium syndrome, lethal type NGS panel | CHRNA1, CHRND, CHRNG | |
| Nephrolithiasis and related disorders NGS panel | ADCY10, AGXT, AP2S1, APRT, ATP6V0A4, ATP6V1B1, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, XDH, CASR, CA2 | |
| Polycystic kidney disease and related disorders NGS panel | ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, MUC1, NPHP3, OFD1, PKD1, PKD2, PKHD1, TMEM231, TSC1, TSC2, UMOD, ZNF423, LRP5, NOTCH2 | |
| Polycystic liver disease NGS panel | GANAB, PKD1, PKD2, PKHD1, PRKCSH, SEC63, LRP5 | |
| Progressive familial heart block type I NGS panel | SCN5A, TRPM4 | |
| Short QT syndrome NGS panel | CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 | |
| Treacher Collins syndrome and related disorders NGS panel | DHODH, EFTUD2, POLR1A, SF3B4, TXNL4A, POLR1C, POLR1D, TCOF1 | |
| Treacher Collins syndrome core NGS panel | POLR1C, POLR1D, TCOF1 | |
| Tuberous sclerosis NGS panel | TSC1, TSC2 | |
| Van der Woude syndrome NGS panel | GRHL3, IRF6 | |
| Zimmermann-Laband syndrome NGS panel | ATP6V1B2, KCNH1 |