Long-QT-Syndrom, NGS-Panel Long QT Syndrome, NGS panel V. a. LQTS, autosomal-dominante Form des Long-QT Syndroms (LQTS), genetisch heterogene Herzrythmusstörung durch im EKG nachweisbare pathologische Verlängerung des QT-Intervalls gekennzeichnet, lebensbedrohliche Arrhythmien vom Typ Torsade de…

Leukodystrophie, juvenil, NGS-Panel Leukodystrophy, early onset - NGS panel Core Gene  ABCD1, ACOX1, AIMP1, ARSA, ASPA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, GALC, GFAP, GJC2, HEPACAM, MLC1, PLP1, PSAP, RNASET2 Erweiterte Panel-Diagnostik  AARS1, AARS2, ABCD1, ACOX1, AIMP1, ALDH3A2,…

Leukodystrophie, adult, NGS-Panel Leukodystrophy, late onset - NGS panel Core Gene ABCD1, ARSA, CSF1R, CYP27A1, EIF2B5, GALC, GFAP, HTRA1, LMNB1, MLC1, NOTCH3 Erweiterte Panel-Diagnostik AARS1, AARS2, ABCD1, ACOX1, AIMP1, ALDH3A2, ARSA, ASPA, ATP7A, ATP7B, ATPAF2, AUH, BCAP31, BCS1L, CLCN2,…

Lebersche kongenitale Amaurose (LCA), NGS-Panel Leber congenital amaurosis (LCA), NGS panel Core Gene AIPL1, CEP290, CRX, GDF6, GUCY2D, LCA5, NMNAT1, RDH12, RPE65, RPGRIP1, SPATA7 Erweiterte Panel-Diagnostik AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, NMNAT1, RD3, RDH12,…

Katecholaminerge polymorphe ventrikuläre Tachykardie / CPVT, NGS-Panel Catecholaminergic polymorphic ventricular tachycardia / CPVT, NGS panel Core Gene CALM1, CASQ2, KCNJ2, RYR2, TRDN Erweiterte Panel-Diagnostik CALM1, CASQ2, DES, DSC2, DSG2, DSP, JUP, KCNJ2, PKP2, RYR2, TGFB3, TMEM43, TRDN…

Katarakt, erbliche - NGS-Panel Cataract, hereditary - NGS panel Core Gene BFSP1, BFSP2, CRYGC, CRYGD, EPHA2, FOXE3, FTL, FYCO1, GJA8, NHS, P3H2, PAX6 Erweiterte Panel-Diagnostik AGK, BCOR, BFSP1, BFSP2, CHMP4B, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC,…

Joubert Syndrom, NGS-Panel Joubert syndrome, NGS panel Core Gene  AHI1, CC2D2A, CEP290, NPHP1, RPGRIP1L, TMEM67 Erweiterte Panel-Diagnostik  AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, KIF7, MKS1, NPHP1, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM237,…

Hermansky-Pudlak-Syndrom / HPS, NGS-Panel Hermansky-Pudlak syndrome /HPS, NGS panel Core Gene AP3B1, BLOC1S3, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6 Erweiterte Panel-Diagnostik AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, EDN3, EDNRB, EPG5, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, KITLG, LYST, MC1R, MITF,…

Harnstoffzyklusdefekte und Störung der Ammoniak-Entgiftung, NGS-Panel Congenital urea cycle defects - NGS panel Core Gene ARG1, ASL, ASS1, CPS1, GALT, MUT, NAGS, OTC, PCCA, SLC25A13, SLC25A15 Erweiterte Panel-Diagnostik: ARG1, ASL, ASS1, CA5A, CPS1, FAH, GALT, GLUD1, IVD, MMAA, MMAB, MUT, NAGS,…

Glykosylierungsstörungen, kongenitale / CDG-Syndrom, NGS-Panel Congenital disorder of glycosylation / CDG - NGS panel Core Gene ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, COG5, COG6, DPAGT1, DPM1, MGAT2, MPDU1, MPI, PGM3, PMM2, RFT1, SRD5A3, TUSC3 Erweiterte Panel-Diagnostik  ALG1, ALG11, ALG12,…