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NGS-Panel

NGS-Untersuchungen

Bindegewebe-Panel
Cutis laxa ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6,
B4GALT7, CHST14, COL11A1, COL2A1, COL3A1,
COL5A1, COL5A2, EFEMP2, ELN, FBLN5, FKBP14,
FLCN, FLNA, LTBP4, PLOD1, PLOD2, PLOD3, PYCR1,
SLC39A13, TNXB
Ehlers-Danlos-Syndrom (EDS) ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14,
COL12A1, COL1A1, COL1A2, COL3A1, COL5A1,
COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5,
SLC39A13, TNXB, ZNF469
Marfan-Syndrom, Aortenaneurysma Thorax

ABCC6, ACTA2, CBS, COL3A1, FBN1, FBN2, MED12,
MYH11, MYLK, NOTCH1, SKI, SLC2A10, SMAD3,
TGFB2, TGFBR1, TGFBR2

Endokrinologie-Panel
Dyslipidämie ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5,
APOB, APOC2, APOC3, APOE, CETP, GPD1,
GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPI,
LMF1, LPL, MTTP, PCSK9, SAR1B, SCARB1
Hypogonadotropher Hypogonadismus CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1,
FLRT3, GLI2, GNRH1, GNRHR, HESX1, HS6ST1,
IL17RD, KAL1, KISS1, KISS1R, LEP, LHX3, LHX4,
NR0B1, NR5A1, NSMF, OTX2, POU1F1, PROK2,
PROKR2, PROP1, SEMA3A, SIX3, SOX10, SOX2,
SOX3, SPRY4, SRY, TAC3, TACR3, WDR11
MODY ABCC8,AKT2, APPL1, BLK, EIF2AK3, FOXP3, GATA6,
GCGR, GCK, GCKR, GLIS3, GLUD1, HADH, HNF1A,
HNF1B, HNF4A, IER3IP1, INSR, IRS1, IRS2, KCNJ11,
KLF11, LIPC, MAPK8IP1, NEUROD1, NEUROG3,
PAX4, PDX1, PTF1A, RFX6, SLC19A2, SLC2A2, TCF7L2,
WFS1, ZFP57
Pankreatitis CTRC, SPINK1, CFTR, PRSS1, PRSS2
Hämatologie-Panel
Faktor V, Fibrinogenmangel F5, FGA, FGB, FGG
Fanconi Anämie FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF,
FANCG
Sphärozytose ANK1, EPB42, SLC4A1, SPTA1, SPTB
Kardiologie-Panel
Herzarrhythmie AKAP9, ANK2, CACNA1C, CACNB2, CALM1, CALM2,
CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP,
KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2,
KCNJ5, KCNQ1, PKP2, RYR2, SCN1B, SCN3B, SCN4B,
SCN5A, SNTA1, TMEM43, TRPM4
Kardiomyopathie ABCC9, ACTC1, ACTN2, CSRP3, DES, DSC2, DSG2,
DSP, JUP, LDB3, LMNA, MYBPC3, MYH6, MYH7,
MYL2, MYL3, MYOZ2, NEXN, PKP2, PLN, RBM20,
SCN5A, SGCD, TAZ, TCAP, TGFB3, TMEM43,
TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
Anm.: Werden beide Kardiologie-Panel angekreuzt, wird eine Clinical Exome Sequenzieru
Neurologie-Panel
Dopa-responsive Dystonie ATP1A3, GCH1, GNAL, PNKD, PRRT2, SGCE, SLC2A1,
SPR, TH, THAP1, TOR1A, TUBB4A
Familiäre hemiplegische Migräne TP1A2, CACNA1A, PRRT2, SCN1A
Ophthalmoplegie, Mitochondriale Deletionen C10orf2, DGUOK,DNA2, FBXL4, MGME1, MPV17, POLG,
POLG2, RNASEH1, RRM2B, SLC25A4, SUCLA2,
SUCLG1, TK2
Rekurrente akute nekrotisierende Enzephalopathie CPT2, IRF3, RANBP2, TICAM1, TLR3, TRAF3, UNC93B1
Spastische Spinalparalyse ALDH18A1, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1,
AP5Z1, ARL6IP1, ATL1, B4GALNT1, BSCL2, C12orf65,
C19orf12, CPT1C, CYP2U1, CYP7B1, DDHD1,
DDHD2, ENTPD1, ERLIN2, FA2H, GAD1, GBA2, GJC2,
HSPD1, IBA57, KIAA0196, KIF1A, KIF1C, KIF5A, L1CAM,
NIPA1, NT5C2, PLP1, PNPLA6, REEP1, REEP2, RTN2,
SLC16A2, SLC33A1, SPAST (SPG4), SPG11, SPG20,
SPG21, SPG7, TECPR2, TFG, VPS37A, ZFYVE26,
ZFYVE27
Zellweger Syndrom PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16,
PEX19, PEX2, PEX26, PEX3, PEX5, PEX6
Onkologie-Panel
Brustkrebs ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2,
RAD51C, RAD51D, TP53
Pulmologie / Internistische Erkrankungen-Panel
Interne Pulmonalhypertonie ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, KCNK3, SMAD9
Surfactantmangel, Dysplasie ABCA3, CSF2RA, CSF2RB, FOXF1, NKX2-1, SFTPB,
SFTPC
Surfactantmangel ABCA3, CSF2RA, CSF2RB, SFTPA2, SFTPB, SFTPC,
SFTPD
Syndromale Erkrankungen-Panel
Nephrotisches Syndrom, Alport Syndrom ACTN4, ADCK4, ANLN, ARHGDIA, CD2AP, COL4A3,
COL4A4, COL4A5, CRB2, DGKE, EMP2, INF2,
LAMB2, MYH9, MYO1E, NPHS1, NPHS2 (PDCN),
PAX2, PLCE1, PTPRO, TRPC6, WT1
Rasopathien (Noonan, NF1) BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1,
NRAS, PTPN11, RAF1, RASA1, RASA2, RIT1, SHOC2,
SOS1, SPRED1