June 25, 2018- Connective Tissue Gene Tests (CTGT) is pleased to announce 5 New or updated NGS panels.
|Bartter syndrome and related disorders NGS panel||BSND, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3, CASR|
|Joubert syndrome and related disorders NGS panel||AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1 (C5orf42), 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|
|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|
|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|
|Renal tubular dysgenesis NGS panel||ACE, AGT, AGTR1, REN|