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, | |
| 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 |