Amsterdam UMC, locatie AMC Afdeling HG
| Aandoening | Gen | Details aandoening (OMIM) |
| Ziekte van Stargardt type 1 ( + MLPA P151-P152) | ABCA4 | 248200 |
| Neonatale diabetes mellitus (+MLPA P117) | ABCC8; GCK; GLUD1; HNF1A; HNF4A; INS; KCNJ11 | 606176 |
| Hyperinsulinisme | ABCC8; GCK; GLUD1; HNF4A; INS; KCNJ11; HNF1A; HADH | 256450 |
| Azoöspermie - oligozoöspermie | AZF; DAZ | 415000 |
| Macula dystrofie (vitelliform) / Best disease | BEST1; VMD2 | 153700, 607854 |
| Cholestase | BRIC1; ATP8B1; PFIC1; ATP8B1; NR1H4; FXR; BRIC2; ABCB11; PFIC2; ABCB11; LPAC; ABCB4; ICP; ABCB4; ICP; ABCB11; PFIC3; ABCB4 | 211600 |
| Fronto Temporaal Dementie (FTD; ALS) | C9ORF72 | 105550 |
| Congenitale stationaire nachtblindheid | CABP4; GRM6; TRPM1; GPR179; NYX; CACNA1F | 310500 |
| Catecholaminerge polymorfe ventriculaire tachycardie (CPVT) | CALM1; CALM2; CALM3; QASQ2; RYR2 | 604772 |
| Primair glaucoom | CYP1B1; MYOC; OPTN | 231300 |
| Cardiomyopathie | ACTC1; ACTN2; ALPK3; ANKRD1; BAG3; CALR3; CAV3; CDH2; CRYAB; CSRP3; CTNNA3; DES; DSC2; DSG2; DSP; EMD (STA); FHL1; FHL2; FLNC; GLA; HCN4; JPH2; JUP; LAMA4; LAMP2; LDB3; LMNA; MIB1; MYBPC3; MYH6; MYH7; MYL2; MYL3; MYOZ2; MYPN; NEXN; PKP2; PLN; PPA2; PRDM16; PRKAG2; RBM20; SCN5A; TAZ; TCAP; TMEM43; TNNC1; TNNI3; TNNT2; TPM1; TTN; TTR; VCL | 125660, 606685 |
| Cardiomyopathie - Sanger per gen | DES; DSC2; DSG2; DSP; EMD (STA); GLA; JUP; LAMP2; LMNA; MYBPC3; MYH7; MYL2; MYL3; PKP2; PLN; PRKAG2; SCN5A; TAZ; TMEM43; TNNI3; TNNT2; TPM1; TTR | Cardiomyopathie |
| Hyper IgE syndroom | DOCK8; STAT3 | 147060 |
| Congenitaal cataract mat faciale dysmofien en neuropathie | CTDP1 (c.863+389C>T) | 604168 |
| Doyne’s Honeycomb dystrofie | EFEMP1 | 126600 |
| Neutropenie | ELANE; HAX1; G6PC3; WAS; GFI1 | 202700; 610738; 614161 |
| PXE-like (ENPP1/GCCX) | ENPP1; GCCX | 610842 |
| Stollingsafwijking (FII, G20210A-mutatie en FV, Leiden-mutatie) | FII; G20210A; FV Leiden | 612309, 176930 |
| Prematuur ovarieel falen (POF), FMR1 premutaties | FMR1; POF | 300624; 311360; 616947; 617442 |
| Axenfeld-Rieger syndroom | FOXC1; PITX2 | 109120 |
| IPEX (FOXP3) | FOXP3 | 304790 |
| Congenitale hartafwijking (o.a. Tetralogie van fallot, ASD, VSD | GATA4; NKX2-5 | 187500 |
| Ziekte van Fabry (+MLPA P159) | GLA | 301500 |
| Pseudohypoparathyroidisme | GNAS | 603233, 103580 |
| Simpson-Golabi-Behmel syndroom ( + MLPA P154) | GPC3 | 312870 |
| Distale Hereditaire Motorische Neuropathie | HMN; ALS; HSPB1; HSPB8; GARS; BSCL2; SETX | 182960 |
| Darmkanker, Polyposis, Lynch NGS panel | HNPCC; MAP; ACVRL1, APC, AXIN2, BMPR1A, ENG, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TSC1, TSC2 | 120435, 114500 |
| Erfelijke drukneuropathie | HNPP; PMP22 | 162500 |
| Primaire hypertrofische osteoarthropathie | HPGD; SLCOA1 | 601688 |
| Hereditaire sensorische en autonome neuropathie | HSANTLC1; RAB7A; HSN2; NGFB; TRPV4 | 201300 |
| Korte QT syndroom | KCNH2; KCNQ1; KCNJ2; SQT; SQT1; SQT2; SQT3 | 609620, 609622, 609622 |
| Jervell-Lange Nielsen syndroom | KCNQ1; KCNE1; JLN; JLN1; JLN2 | 220400, 612347 |
| Wolff-Parkinson-White syndroom | LAMP2; NKX2-5; PRKAG2 | 194200 |
| Microcephalie, primair autosomaal recessief | MCPH1; WDR62; ASPM; CENPJ; STIL | 251200 |
| Rett syndroom | MECP2; CDKL5; FOXG1 | 312750 |
| Silver-Russell syndroom (bloed) | Methylering 11p15 (H19); CDKN1C; UPD7 | 180860 |
| Kagami-Ogata syndroom (paternale UPD14) | Methylering 14q32 (MEG3); UPD14 | 608149 |
| UPD20 syndroom | Methyleringstest (MLPA ME031); UPD20 | 139320 |
| Myotubulaire myopathie | MTM1 | 300171 |
| Volendam founder mutaties | MUSK; TSEN54; PEX7; CRTAP; POLG; LRAT; CRB1; USH2A; ADGRV1; PAH; CCDC114 | 615067, 277470 |
| Cornelia de Lange syndroom | NIPBL; SMC1A; HDAC8 | 300882, 122470, 300590 |
| Benigne erfelijke chorea (BHC) | NKX2-1; TITF1 | 118700 |
| Congenitale melanocytische naevus | NRAS | 164790 |
| Opticus atrofie type 1 (+MLPA P229) | OPA1; OPA3 | 165500; 165300 |
| Aniridie, Anoftalmie | OTX2; PAX6; SOX2; SIX6 | 106210 |
| Microftalmie | OTX2; PAX6; SOX2; SIX6 | 610125, 607932 |
| Ponto-Cerebellaire Hypoplasie | PCH; CASK; EXOSC3; RARS2; TSEN2; TSEN34; TSEN54; TSEN15; TOE1; VRK1 | 607596; 277470; 614969 |
| Camptodactylie-arthropathie-cox vara - pericarditis syndroom | PRG4 | 208250 |
| Carney complex type 1 | PRKAR1A | 188830 |
| Centraal areolaire chorioide dystrofie (PRPH2) (RDS) | PRPH2; RDS | 608133 |
| Ovariumdysgenese (PSMC3IP) | PSMC3IP | 608665 |
| Chondrodysplasie | PTH1R | 168468 |
| Primair falen van eruptie | PTH1R | 168468 |
| Capillaire malformatie - arterioveneuse malformaties (CM-AVM) | RASA1; CVAVM | 608354 |
| Retinitis pigmentosa, X-linked | RPGR; RP2 | 268000; 312600; 312610; 613731 |
| Cardio Spoed pakket | RYR2; KCNQ1; KCNH2; LMNA; SCN5A; PLN; LQT1; LQT2 | 192500, 613688 |
| Atrial standstill | SCN5A | 600163 |
| Brugada syndroom | SCN5A | 601144 |
| Sick sinus syndroom | SCN5A; HCN4 | 608567 |
| Geleidingsstoornissen | SCN5A; TRPM4;(+ 48 genen) | 115080 |
| Cherubisme (reuscel granuloom) | SH3BP2 | 118400 |
| Pendred syndroom ( + MLPA P280) | SLC26A4 | 274600 |
| Juveniele polyposis coli (+MLPA P158) | SMAD4; BMPR1A | 174900 |
| Nicolaides-Baraitser syndroom | SMARCA2 | 601358 |
| Ziekte van Niemann Pick (bloed) | SMPD1; NPC1; NPC2 | 2572200, 607625, 607616, 257200 |
| TRP syndroom ( + MLPA P228) | TRPS1 | 190350 |
| Hyperthyreoidie | TSHR | 275200 |
| Beckwith-Wiedemann syndroom (BWS) | UPD; H19; CDKN1C; KCNQ1OT1; LIT1 | 130650 |
| Galloway-Mowat syndroom | WDR73 | 616144 |
| Retinoschisis, X-linked | XLRS1 | 312700 |
| Desbuquois dysplasie (type2) | XYLT1 | 615777 |
| Hereditaire neuralgische amyotrofie | (HNA) SEPT9 | 162100 |
| Retinitis pigmentosa blindheidspanel | ABCA4; ARHGEF18; ARL2BP; ARL3; ARL6; BBS1; BBS2; BEST1; C2orf71; C8orf37; CA4; CERKL; CLRN1; CNGA1; CNGB1; CRB1; CRX; CYP4V2; DHDDS; DHX38; EMC1; EYS; FAM161A; FSCN2; GUCA1B; IDH3B; IFT172; IMPDH1; IMPG2; KIZ; KLHL7; LRAT; MAK; MERTK; MVK; NR2E3; NRL; OFD1; PDE6A; PDE6B; PDE6G; POMGNT1; PRCD; PROM1; PRPF3; PRPF31; PRPF4; PRPF6; PRPF8; PRPH2; RBP3; RDH12; REEP6; RGR; RHO; RLBP1; ROM1; RP1; RP1L1; RP2; RP9; RPE65; SAG; SEMA4A; SLC7A14; SNRNP200; SPATA7; SPP2; TOPORS; TTC8; TULP1; USH2A; ZNF513 | 268000; 312600; 312610; 613731 |
| Dubin-Johnsen syndroom | ABCC2 | 237500 |
| Pseudoxanthoma elasticum ( + MLPA P092) | ABCC6 | 264800 |
| Lymfoedeem, Hennekam; Hypotrichosis; Distichiasis | ABCC9, ALG8, BRAF, CBL, CCBE1, CDK19, DCHS1, FAT4, FLT4, FOXC2, GATA2, GJA1, GJC2, GLA, HGF, HRAS, ITGA9, KIF11, KRAS, MAP2K1, MAP2K2, MET, MPI, NAGA, NRAS, PEPD, PMM2, PTPN11, PTPN14, RAF1, RELN, SHOC2, SOS1, SOX18, SPRED1, TUBGCP6, VEGFC | 153400; 235510; 604379 |
| Metabole neurodegeneratieve aandoeningen, incl/excl psychose | ABCD1; COQ8A; ADSL; ALAD; ALDH7A1; APTX; ARG1; ARSA; ASL; ASS1; ATP7B; BCKDHA; BCKDHB; CBS; COQ2; COQ9; CPOX; CPS1; CYP27A1; DBT; DDC; DLD; GAMT; GATM; GCDH; GCH1; GNS; HEXA; HGSNAT; HLCS; HMBS; HPRT1; IDS; IDUA; IVD; LMBRD1; MAN2B1; MLYCD; MMAA; MMAB; MMACHC; MMADHC; MOCS1; MOCS2; MTHFR; MTR; MTRR; MUT; NAGLU; NAGS; NPC1; NPC2; OTC; PCBD1; PCCA; PCCB; PDSS1; PDSS2; PNP; PNPO; PPOX; PTS; QDPR; SGSH; SLC2A1; SLC6A19; SPR | 277400, 261640, 248600 |
| Vaatmalformaties | ACVRL1; ANTXR1; BMPR2; CAV1; CCM2; ENG; GDF2; GLMN; KCNK; KDR;KRIT1; PDCD10; PTEN; RASA1; SMAD4; SOX18; TEK | 606893 |
| Cowden syndroom | AKT1; PIK3CA; PTEN; SDHB; SDHD | 158350 |
| Obesitas | ALMS1; BDNF; CPE; GNAS; LEP; LEPR; MAGEL2; MC3R; MC4R; NPY4R; PCSK1; PHF6; POMC; SIM1 ; VPS13B | 601665 |
| Familiaire amyloïde polyneuropathie | APOA1 | 107680 |
| Hypobetalipoproteinemie: laag LDL (< 2 mmol/l) | APOB; PCSK9; ANGPTL3; MTTP | 605019 |
| Dysbetalipoproteïnemie | APOE | 107741 |
| Preconceptioneel Ashkenazi founder mutaties | ASPA; BLM; CFTR; FANCC; G6PC; HEXA; IKBKAP; MCOLN1; SMPD1 | 219700 |
| Familiaire hypercholanemie (FHCA) | BAAT | 607748 |
| Blindheidspanel Cone (rod) dystrofie | BCA4; ADAM9; AIPL1; ATF6; BEST1; C1QTNF5; C21orf2; C8orf37; CACNA1F; CDHR1; CERKL; CEP78; CFH; CNGA3; CNGB3; CNNM4; CRX; CTNNA1; ELOVL4; GUCA1A; GUCA1B; GUCY2D; IMPG1; KCNV2; MMACHC; MFSD8; PDE6C; PDE6H; POC1B; PROM1; PRPH2; RAB28; RDH5; RIMS1; RP1L1; RPGRIP1; SEMA4A; TIMP3; TTLL5; UNC119 | 304020 |
| Amyotrofische lateraal sclerose | C9ORF72; SOD1; ANG; FUS; TARDBP; SETX; VCP; ALS-FTD, ALS-FTD - C9ORF72 | 105400 |
| Achromatopsia | CNGB3; CNGA3 | 605080 |
| Ziekte van Bethlem | COL6A1; COL6A2; COL6A3 | 158810 |
| Methemoglobinemie | CYB5R3; DIA1 | 250800 |
| Familiaire hyperaldosteronisme type 1 (GRA) | CYP11B1-CYP11B2; CYP11B1; CYP11B2; KCNJ5; GRA | 103900 |
| Cerebrotendineuze xanthomatose | CYP27A | 213700 |
| Statine resistentie | CYP7A1 | 118455 |
| XY Gonadale dysgenesie | DHH | 605423 |
| Ventriculaire fibrillatie, paroxysmale | DPP6 | 612956 |
| Carvajal syndroom | DSP | 125647 |
| Skin fragility woolly hair syndroom | DSP | 607655 |
| Dystonieën | DYT11; SGCE; DYT1; DYT6; THAP1 | 128100 |
| Musculaire dystrofie; Emery Dreifuss; Limb Girdle | EMD(STA); LMNA | 310300; 159001; 159000; 181350 |
| Hemofilie A (F8 + MLPA P178) | F8 | 306700 |
| Adenomateuse polyposis coli | FAP; ACVRL1; APC; AXIN2; BMPR1A; ENG; EPCAM; GREM1; MLH1; MSH2; MSH6;MUTYH; NTHL1; PMS2; POLD1; POLE; PTEN; SMAD4; STK11; TSC1; TSC2 | 175100 |
| Fragiele X syndroom | FMR1; FraX | 300624 |
| Fragiele X tremor/ataxia syndroom | FMR1; FraX; TAS | 300623 |
| Nystagmus, congenitale | FRMD7 | 300628 |
| Ziekte van Gaucher | GBA | 608013 |
| Ziekte van Charcot Marie Tooth type 4 (CMT) | GDAP1; MTMR2; SH3TC2; NDRG1; FIG4; FGD4; CTDP1 | 214400 |
| Ziekte van Charcot Marie Tooth x-linked dominant type 1 (CMT; GJB1) | GJB1 | 302800 |
| Albright's erfelijke osteodystrofie ( + MLPA ME031) | GNAS | 139320 |
| McCune-Albright syndroom (MAS) | GNAS | 174800 |
| Pseudopseudohypoparathyroidisme ( + MLPA ME031) | GNAS | 603233 |
| Hemihypertrofie (UPD) | H19; KCNQ1OT1; LIT1 | 235000 |
| Ziekte van Tay-Sachs ( + MLPA P199) | HEXA | 272800 |
| Neuropathie | HMSN; HSN; DSMA; DHMN;AARS; ABHD12; AIFM1; ARHGEF10; ARSA; ASAH1; ATL1; ATL3; ATM; ATP7A; BICD2; BSCL2; CCT5; COX6A1; CTDP1; DCAF8; DCTN1; DGUOK; DHH; DHTKD1; DNAJB2; DNM2; DNMT1; DST; DYNC1H1; EGR2; FAM134B; FBLN5; FBXO38; FGD4; FIG4; FLVCR1; GALC; GAN; GARS; GDAP1; GJB1; GJB3; GNB4; HARS; HINT1; HK1; HOXD10; HSPB1; HSPB3; HSPB8; IFRD1; IGHMBP2; IKBKAP; KARS; KIF1A; KIF1B; KIF5A; KLHL9; LAS1L; LITAF; LMNA; LRSAM1; MAPT; MARS; MED25; MFN2; MPZ; MTMR2; MYH14; NDRG1; NEFL; NGF; NIPA1; NTRK1; PDK3; PEX1; PEX7; PHYH; PLA2G6; PLEKHG5; PMM2; PMP22; PRPS1; PRX; RAB7; REEP1; RNF170; SBF1; SBF2; SCN10A; SCN11A; SCN9A; SCO2; SEPT9; SETX; SH3TC2; SLC12A6; SLC5A7; SOX10; SPTLC1; SPTLC2; SURF1; SYT2; TDP1; TFG; TK2; TRIM2; TRPV4; UBA1; VAPB; VCP; WNK1; YARS | 302800 |
| Darmkanker / Lynch syndroom | HNPCC; MLH1; MSH2 ; MSH6 ; PMS2; EPCAM | 120435 |
| Erfelijke prostaat kanker | HOXB13 | 610997 |
| Thyreoidale hypothyreoïdie NGS pakket | HT; CHT; TH; DUOX2; DUOXA2; FOXE1; HOXA3; IYD; NKX2-1; PAX8; SLC26A4; SLC5A5; TG ; TPO; TPST2; TSHR ; HESX1; IGSF1; IRS4; LHX3; LHX4; OTX2; PROP1 ; POU1F1; SOX2; TBL1X; SOX3; TRH; TRHR; TSHB; ATP8B1; ABCB11; ABCB4; NR1H4; FXR | 275200, 241850, 274400 |
| Centrale hypothyreoidie | HT; THT; CHTH; DUOX2; DUOXA2; FOXE1; HOXA3; IYD; NKX2-1; PAX8; SLC26A4; SLC5A5; TG ; TPO; TPST2; TSHR ; HESX1; IGSF1; IRS4; LHX3; LHX4; OTX2; PROP1 ; POU1F1; SOX2; TBL1X; SOX3; TRH; TRHR; TSHB; ATP8B1; ABCB11; ABCB4; NR1H4; FXR | 300888 |
| Riley-Day syndroom | IKBKAP | 223900 |
| Ziekte van Danon | LAMP2 | 300257 |
| NGS Leber congenitale amaurosis | LCA; AIPL1; CABP4; CEP290; CRB1; CRX; DTHD1; GDF6; GUCY2D; IMPDH1; IQCB1; KCNJ13; LCA5; LRAT; NMNAT1; OTX2; PRPH2; RD3; RDH12; RPE65; RPGRIP1; SPATA7; TULP1 | 204000, 241000 |
| Hypoalfalipoproteinemie: laag HDL (< 0.8 mmol/l) | LCAT; ABCA1; APOA1 | 604091 |
| Familiaire Hypercholesterolemie | LDLR; APOB; PCSK9 | 143890 |
| Cholesterolester stapelingsziekte | LIPA | 613497 |
| Lipodystrofie ( + MLPA P048) | LMNA | 151660 |
| Hypertriglyceridemie: hoog TG (> 5 mmol/l) | LPL; APOC2; GPIHBP1; APOA5 | 145750 |
| Lange QT syndroom, Andersen syndroom, Timothy syndroom | LQT; LQT1; LQT2; LQT3; LQT5; LQT6; LQT9; SCN5A; CACNA1C; CACNB2; GPD1L; SCN1B; SCN3B; KCNE3; HCN4; KCNJ8; KCND3; KCNE1L; RANGRF; RYR2; CASQ2; TRDN; CALM1; KCNQ1; KCNH2; KCNE1; KCNE2; SCN4B; ANK2; KCNJ2; CAV3; AKAP9; KCNJ5; SNTA1; PRKAG2; LAMP2; CACNA2D1; CACNA1D; TRPM4; LMNA; GJA5; KCNA5; ABCC9; NPPA; DPP6variant; PLN; PKP2; TNNT2; CALM2; CALM3; JPH2; ASPH; SCN2B; SLMAP; SCN10A | 607542, 613688, 601005 |
| Gelocaliseerde overgroei - Somatische mutaties | MCAP; MPPH; PIK3CA; Proteus syndroom; AKT1; AKT3; MTOR; PIK3R2; PTEN; TSC1; TSC2 | 612918 |
| UPD14 syndroom | MEG3; UPD14 bij afwijkende methylering | MEG3; Methylering; UPD |
| Multi Locus Imprinting Disorder (MLID) | Methylerings- en CNV analyse (MLPA ME034); UPD | |
| Ziekte van Charcot Marie Tooth type 2 (CMT) | MFN2; MPZ; GJB1; GDAP1; NEFL; GARS; RAB7A ; HSPB1 ; HSPB8 ; TRPV4; LMNA ; DNM2 ; LRSAM1 | 118210 |
| Arthrogrypose distaal | MYH8; MYH3; TNNI2; MYBPC1; TPM2; TNNT3; PIEZO2; ECEL1 | 108120 |
| Aritmie |
ABCC9; AKAP9; ANK2; ASPH; CACNA1C; CACNA1D; CACNA2D1; CACNB2; CALM1; CALM2; CALM3; CASQ2; CAV3; DPP6 (c.-340C>T NM_001936); GJA5; GPD1L; HCN4; JPH2; KCNA5; KCND3; KCNE1; KCNE2; KCNE3; KCNE5(KCNE1L); KCNH2; KCNJ2; KCNJ5; KCNJ8; KCNQ1; LAMP2; LMNA; NPPA; PKP2; PLN; PRAKG2; RANGSF(MOG1); RYR2; SCN10A; SCN1B; SCN2B; SCN3B; SCN4B; SCN5A; SLMAP; SNTA1; TNNT2; TRDN; TRPM4 |
11500 |
| Albinisme | OCA1; OCA4; OA1; Pgen; P; OCA4; MATP; SLC45A2 AP3B1; BLOC1S3; BLOC1S6; C10orf11; DTNBP1; GPR143; HPS1; HPS3; HPS4;HPS5; HPS6; LYST; MC1R; MITF; MLPH; MYO5A; OCA2; RAB27A; SLC24A5; SLC38A8; SLC45A2; TYR; TYRP1 | 300500 |
| Bewegingsstoornissen | Zie aanvraagform | 300623 |
| Blindheid pakket (254 genen) | Zie aanvraagform | blindheid |
| NGS Dragerschaptest | Zie aanvraagform | Preconceptie test |
| Epilepsie | Zie aanvraagform | Epilepsie |
| Spieraandoeningen | Zie aanvraagform | Spieraandoeningen |
| Properdine deficiëntie | PFC | 312060 |
| Ziekte van Charcot Marie Tooth type 1 (CMT) | PMP22; MPZ ; GJB1; LITAF; EGR2 ; NEFL | 118200 |
| Goltz-Gorlin syndroom | PORCN | 305600 |
| Creutzfeldt Jakob disease | PRNP | 176640 |
| Serrated Polyposis Syndroom | RNF43 | 617108 |
| Shwachman-Diamond syndroom | SBDS | 260400 |
| Hypoalfalipoproteinemie: hoog HDL (>3 mmol/l) | SCARB1; CETP; LIPC; LIPG | 143470 |
| Angioneurotisch oedeem | SERPING1; F12 | 106100, 610618 |
| Riboflavin deficiency | SLC52A1; RFT1 | 615026 |
| Myopathie op statines | SLCO1B1 | 604843 |
| Angelman syndroom | SNRPN ; UBE3A; UPD15 | 105830 |
| Prader-Willi syndroom | SNRPN; UPD15 | 176270 |
| Barth syndroom | TAZ | 302060 |
| Holt-Oram syndroom (TBX5 + MLPA 311) | TBX5 | 142900 |
| Veneuze malformaties | TEK | 600195 |
| Schildklierhormoonresistentie | THRB | 188570 |
| Denys-Drash syndroom | WT1 | 194080 |
| Frasier syndroom | WT1 | 136680 |
| Wilms tumor ( + MLPA P118) | WT1 | 194070 |
| Verminderde gevoeligheid voor schildklierhormoon | CRYM; DIO1; DIO2; DIO3; SECISBP2; SLC16A2; SLC16A10; SLC7A7; SLCO1C1; TBG; THRA; THRB | 616357, 609698, 300932, 614450 |
| Afwijkend (plasma) transporteiwit | ALB; TBG (SERPINA7); TTR | 615999, 300932, 145680 |
| Plotse hartdood / sudden cardiac death (SCD) | ABCC9; AKAP9; ANK2; CACNA1C; CALM1; CALM2; CALM3; CASQ2; CAV3; DPP6; DSC2; DSG2; DSP; FLNC; GJA5; HCN4; HEY2; HOOK3; JPH2; JUP; KCNA5; KCD3; KCNE1; KCNE2; KCH2; KCNJ2; KCNQ1; LAMP2; LMNA; MYBPC3; MYH7; MYL2; MYL3; MYL4; NKX2-5; NPPA; PKP2; PLN; PRKAG2; RANGRF; RBM20; RRAD; PYR2; SCN5A; SLC4A3; SNTA1; TCAP; TECRL; TNNI3; TNNI3K; TNNT2; TPM1; TRDN; TRPM4 |
