DISLIPEMIAS / GLUCOGENOSIS |
DISLIPIDEMIA FAMILIAR (103 GENES) |
NGS |
ABCA1, ABCG1, ABCG5, ABCG8, ADD1, AGPAT2, AKT2, ANGPTL3, ANGPTL4, APOA1, APOA2, APOA4, APOA5, APOB, APOBEC1, APOC2, APOC3, APOE, APPL1, ATF6, BLK, BSCL2, BUD13, CAV1, CAVIN1, CEL, CELSR2, CERS4, CETP, CIDEC, CILP2, CRABP2, EIF2AK3, EPHX2, FABP2, FOXC2, FOXP3, FTO, GALNT2, GATA6, GCK, GLIS3, GPD1, GPIHBP1, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSIG2, INSR, KCNJ11, KLF11, KLHL8, LCAT, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LIPG, LMF1, LMNA, LPA, LPL, LRP6, MAFB, MC4R, MEF2A, MTTP, MYLIP, NEUROD1, NEUROG3, PAX4, PCDH15, PCSK9, PDX1, PHKA2, PLIN1, PNPLA2, PNPLA5, PON1, PPARA, PPARG, PSMB8, PTF1A, RFX6, RXRG, SAR1B, SCARB1, SLC25A40, SLC2A2, SORT1, STAP1, TBC1D4, TCF7L2, TNFRSF1B, TRIB1, USF1, WFS1, WWOX, ZMPSTE24 |
GLUCOGENOSIS HEPÁTICAS (7 GENES) |
NGS |
G6PC, GBE1, GYS2, PHKA2, PYGL, SLC2A2, SLC37A4 |
HIPERCOLESTEROLEMIA FAMILIAR (13 GENES) |
NGS |
ABCG5, ABCG8, APOB, APOE, CRABP2, EPHX2, LDLR, LDLRAP1, LIPA, LPA, PCSK9, PNPLA5, STAP1 |
HIPERTRIGLICERIDEMIA PRIMARIA / POLIGÉNICA / HIPERLIPEMIA COMBINADA FAMILIAR (47 GENES) |
NGS |
ADD1, ANGPTL3, APOA1, APOA4, APOA5, APOB, APOBEC1, APOC2, APOC3, APOE, ATF6, BUD13, CERS4, CETP, CILP2, CRABP2, FABP2, FOXC2, FTO, GALNT2, GPD1, GPIHBP1, HNF4A, KLHL8, LCAT, LDLR, LEP, LEPR, LIPC, LMF1, LPL, LRP6, MC4R, MYLIP, PCDH15, PCSK9, PNPLA2, PON1, PPARA, PPARG, RXRG, SLC25A40, TCF7L2, TNFRSF1B, TRIB1, USF1, WWOX |
HIPOLIPIDEMIA FAMILIAR (13 GENES) |
NGS |
ABCA1, ABCG1, ANGPTL3, ANGPTL4, APOA1, APOA2, APOB, APOC3, LCAT, MTTP, MYLIP, PCSK9, SAR1B |
LIPODISTROFIAS (12 GENES) |
NGS |
AGPAT2, AKT2, BSCL2, CAV1, CAVIN1, CIDEC, LIPE, LMNA, PLIN1, PPARG, PSMB8, ZMPSTE24 |
ENFERMEDADES RENALES |
ENFERMEDAD POLIQUÍSTICA RENAL (6 GENES) |
NGS |
DNAJB11, DZIP1L, GANAB, PKD1, PKD2, PKHD1 |
NEFROPATÍA IgA (3 GENES) |
NGS |
ACE, AGT, SPRY2 |
SÍNDROME DE ALPORT (3 GENES) |
NGS |
COL4A3, COL4A4, COL4A5 |
ALTERACIONES DEL METABOLISMO ÓSEO / METABOLOPATÍAS CONGÉNITAS |
ACIDEMIA MALÓNICA |
NGS |
MLYCD |
ACIDEMIA PROPIÓNICA (2 GENES) |
NGS |
PCCA, PCCB |
ACIDURIA 2-HIDROXIGLUTÁRICA (2 GENES) |
NGS |
D2HGDH, L2HGDH |
ACIDURIA 3-METILGLUTACÓNICA (8 GENES) |
NGS |
AUH, CLPB, DNAJC19, HTRA2, OPA3, SERAC1, TAZ, TIMM50 |
ACIDURIA 4-HIDROXIBUTÍRICA |
NGS |
ALDH5A1 |
ACIDURIA D-GLICÉRICA |
NGS |
GLYCTK |
ACIDURIA ETILMALÓNICA CON ENCEFALOPATÍA |
NGS |
ETHE1 |
ACIDURIA GLUTÁRICA (5 GENES) |
NGS |
ETFA, ETFB, ETFDH, GCDH, SUGCT |
ACIDURIA HIDROXIMETILGLUTÁRICA |
NGS |
HMGCL |
ACIDURIA ISOVALÉRICA |
NGS |
IVD |
ACIDURIA METILMALÓNICA (5 GENES) |
NGS |
MCEE, MMAA, MMAB, MMADHC, MUT |
ACIDURIA METILMALÓNICA CON HOMOCISTINURIA (9 GENES) |
NGS |
ABCD4, AMN, CD320, GIF, HCFC1, LMBRD1, MMACHC, MMADHC, TCN2 |
ACIDURIA METILMALÓNICA Y MALÓNICA COMBINADA |
NGS |
ACSF3 |
ACIDURIA MEVALÓNICA |
NGS |
MVK |
ACIDURIA OXOGLUTÁRICA |
NGS |
OGDH |
ADRENOLEUCODISTROFIA LIGADA AL X |
NGS |
ABCD1 |
ALTERACIONES METABOLISMO DEL FOLATO (2 GENES) |
NGS |
FOLR1, SLC46A1 |
BIOTINIDASA |
NGS |
BTD |
CRANEOSINOSTOSIS (11 GENES) |
NGS |
ADAMTSL4, ALPL, CTSK, FBN1, FGFR3, FLNA, GNAS, IDS, IDUA, SMAD6 |
CUTIS LAXA (9 GENES) |
NGS |
ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1 |
DEFECTOS EN b-OXIDACIÓN DE ÁCIDOS GRASOS (10 GENES) |
NGS |
ACADM, ACADS, ACADVL, CPT1A, CPT2, HADH, HADHA, HADHB, SLC22A5, SLC25A20 |
DEFECTOS EN EL CICLO DE LA UREA (10 GENES) |
NGS |
AASS, ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15, SLC7A2 |
DEFECTOS EN LA BIOSÍNTESIS DEL COLESTEROL (4 GENES) |
NGS |
DHCR7, DHCR24, NSDHL, SC5D |
DEFICIENCIA DE 2-METIL-3-HIDROXIBUTIRIL-CoA DESHIDROGENASA |
NGS |
HSD17B10 |
DEFICIENCIA DE GLICEROL QUINASA |
NGS |
GK |
DEFICIENCIA DE LIPOILTRANSFERASA 1 |
NGS |
LIPT1 |
DEFICIENCIA DE METILMALONATO SEMIALDEHÍDO DESHIDROGENASA |
NGS |
ALDH6A1 |
DEFICIENCIA EN 3-HIDROXI-ISOBUTIRIL-CoA HIDROLASA |
NGS |
HIBCH |
DEFICIENCIA EN FRUCTOSA 1,6 BIFOSFATASA |
NGS |
FBP1 |
DEFICIENCIA EN FUMARASA |
NGS |
FH |
DEFICIENCIA EN PIRUVATO CARBOXILASA |
NGS |
PC |
DEFICIENCIA EN PROLIDASA |
NGS |
PEPD |
DEFICIENCIA MÚLTIPLE DE CARBOXILASAS |
NGS |
HLCS |
DISPLASIAS ESQUELÉTICAS (62 GENES) |
NGS |
ALPL, AMER1, ANKH, ATP6V0A2, BMP1, CA2, CASR, CDKN1C, CHST14, CLCN5, CLCN7, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COMP, CRTAP, CTSK, DMP1, ENPP1, FBN1, FGF23, FGFR3, FKBP10, FLNA, FUCA1, GALNS, GALNT3, GDF6, GLB1, GNAS, IDS, IDUA, IFITM5, LEMD3, LMX1B, LRP4, LRP5, PHEX, PLOD2, PPIB, PTH1R, ROR2, RUNX2, SERPINF1, SERPINH1, SGSH, SHOX, SLC34A3, SOST, SOX9, SP7, TCIRG1, TGFB1, TGFBR1, TGFBR2, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, WNT5A |
ENFERMEDAD DE CANAVAN |
NGS |
ASPA |
ENFERMEDAD DE FABRY |
NGS |
GLA |
ENFERMEDAD DE GAUCHER |
NGS |
GBA |
ENFERMEDAD DE JARABE DE ARCE (5 GENES) |
NGS |
BCKDHA, BCKDHB, DBT, DLD, PPM1K |
ENFERMEDAD DE MENKES |
NGS |
ATP7A |
ENFERMEDAD DE POMPE |
NGS |
GAA |
ENFERMEDAD DE SALLA |
NGS |
SLC17A5 |
ENFERMEDAD DE WILSON |
NGS |
ATP7B |
GALACTOSEMIA (3 GENES) |
NGS |
GALE, GALK1, GALT |
GALACTOSIALIDOSIS |
NGS |
CTSA |
GANGLIOSIDOSIS (4 GENES) |
NGS |
GLB1, GM2A, HEXA, HEXB |
HIPERCALCEMIA (3 GENES) |
NGS |
AP2S1, CASR, GNA11 |
HIPERFENILALANINEMIA (7 GENES) |
NGS |
DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR |
HIPERGLICINEMIA NO CETÓSICA (3 GENES) |
NGS |
AMT, GCSH, GLDC |
HIPEROXALURIA (3 GENES) |
NGS |
AGXT, GRHPR, HOGA1 |
HIPOFOSFATASIA (DEFICIENCIA DE FOSFATA ALCALINA) |
NGS |
ALPL |
HOMOCISTINURIA (4 GENES) |
NGS |
CBS, MTHFR, MTR, MTRR |
INTOLERANCIA A LA FRUCTOSA |
NGS |
ALDOB |
LISINURIA PROTEICA |
NGS |
SLC7A7 |
METABOLISMO CUERPOS CETÓNICOS (3 GENES) |
NGS |
ACAT1, HMGCS2, OXCT1 |
MUCOLIPIDOSIS (2 GENES) |
NGS |
GNPTG, MCOLN1 |
MUCOPOLISACARIDOSIS (10 GENES) |
NGS |
ARSB, GALNS, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH |
OLIGOSACARIDOSIS (6 GENES) |
NGS |
AGA, FUCA1, MAN2B1, MANBA, NAGA, NEU1 |
OSTEOARTROPATÍA HIPERTRÓFICA PRIMARIA (15 GENES) |
NGS |
ANKH, CA2, CLCN7, COL1A1, CTSK, GALNT3, LEMD3, LRP4, LRP5, SOST, TCIRG1, TGFB1, TNFRSF11A,TNFRSF11B, TNFSF11 |
OSTEOGÉNESIS IMPERFECTA (19 GENES) |
NGS |
BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, P3H1, PLOD2, PLS3, PPIB, SERPINF1, SEC24D, SERPINH1, SP7, SPARC, TMEM38B, WNT1, XYLT2 |
OSTEOPETROSIS (7 GENES) |
NGS |
AMER1, CA2, CLCN7, LRP5, TCIRG1, TNFRSF11A, TNFSF11 |
POROQUERATOSIS |
NGS |
FDPS |
PSEUDOXANTHOMA ELASTICUM (2 GENES) |
NGS |
ABCC6, XYLT2 |
RAQUITISMO (11 GENES) |
NGS |
CLCN5, CYP27B1, DMP1, ENPP1, FAM20C, FGFR1, FGF23, GNAS, PHEX, SLC34A3, VDR |
SARCOSINEMIA |
NGS |
SARDH |
SIALURIA |
NGS |
GNE |
SÍNDROME AICARDI-GOUTIERES (7 GENES) |
NGS |
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 |
SÍNDROME CARDIACO CONGÉNITO Y SÍNDROME DE MALFORMACIONES ESQUELÉTICAS |
NGS |
ABL1 |
SÍNDROME DE CHANARIN-DORFMAN |
NGS |
ABHD5 |
SÍNDROME DE GILBERT |
NGS |
UGT1A1 |
SÍNDROME DE MARFAN (4 GENES) |
NGS |
CBS, FBN1, TGFBR1, TGFBR2 |
SÍNDROME EHLERS-DANLOS (10 GENES) |
NGS |
ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, TNXB, ZNF469 |
SÍNDROME KLIPPEL-FEIL (3 GENES) |
NGS |
GDF3, GDF6, MEOX1 |
SÍNDROME LOEYS-DIETZ (5 GENES) |
NGS |
SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 |
SÍNDROME ROBINOW (2 GENES) |
NGS |
DVL1, WNT5A |
SÍNDROME STICKLER / FIBROCONDROGÉNESIS (3 GENES) |
NGS |
COL11A1, COL11A2, COL2A1 |
SÍNDROME WEILL-MARCHESANI (3 GENES) |
NGS |
ADAMTS10, ADAMTS17, FBN1 |
TIROSINEMIA (3 GENES) |
NGS |
FAH, HPD, TAT |
CANCER HEREDITARIO |
CÁNCER COLORRECTAL NO POLIPÓSICO HEREDITARIO (SÍNDROME DE LYNCH) (18 GENES) |
NGS |
APC, AXIN2, BLM, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53 |
CÁNCER DE PRÓSTATA HEREDITARIO (16 GENES) |
NGS |
ATM, ATR, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53 |
CÁNCER RENAL HEREDITARIO (22 GENES) |
NGS |
BAP1, CDC73, CHEK2, DICER1, EPCAM, FH, FLCN, MET, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, WT1 |
MELANOMA FAMILIAR (8 GENES) |
NGS |
BAP1, BRCA2, CDK4, CDKN2A, POT1, PTEN, RB1, TP53 |
NEUROFIBROMATOSIS (3 GENES) |
NGS |
NF1, NF2, SPRED1 |
PANCREATITIS HEREDITARIA/CÁNCER DE PÁNCREAS (11 GENES) |
NGS |
ATM,BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PRSS1, SPINK1, STK11 |
POLIPOSIS ADENOMATOSA FAMILIAR (2 GENES) |
NGS |
APC, MUTYH |
SÍNDROME DE CÁNCER MAMA/OVARIO HEREDITARIO (23 GENES) |
NGS |
APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 |
SINDROME DE GORLIN (3 GENES) |
NGS |
PTCH1, PTCH2, SUFU |
TUMORES NEUROENDOCRINOS (7 GENES) |
NGS |
MEN1, NF1, RET, SDHB, SDHC, SDHD, VHL |
XERODERMA PIGMENTOSO (8 GENES) |
NGS |
DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC |
NEUROPATÍAS HEREDITARIAS |
ENFERMEDAD DE CHARCOT-MARIE-TOOTH (58 GENES) |
NGS |
AARS, AIFM1, BICD2, BSCL2A, COX6A1, DCTN1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, LITAF, LMNA, LRSAM1, MARS, MFN2, MME, MORC2, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP22, PNKP, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC12A6, SPG11, SURF1, TFG, TRIM2, TRPV4, VCP, YARS |
CHARCOT-MARIE-TOOTH DESMIELINIZANTE (28 GENES) |
NGS |
AIFM1, COX6A1, DNM2, EGR2, FBLN5, FGD4, FIG4, GDAP1, GJB1, GJB3, GNB4, HARS, INF2, KARS, LITAF, LRSAM1, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRX, SBF1, SBF2, SH3TC2, SURF1, YARS |
CHARCOT-MARIE-TOOTH AXONAL (43 GENES) |
NGS |
AARS, AIFM1, ATP1A1, CHCHD10, COX6A1, DHTKD1, DNAJB2, DNM2, DYNC1H1, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF5A, LMNA, LRSAM1, MARS, MFN2, MME, MORC2, MPZ, NAGLU, NEFH, NEFL, PDK3, PLEKHG5, RAB7A, SLC12A6, SPG11, SURF1, TFG, TRIM2, TRPV4, VCP, YARS |
CHARCOT-MARIE-TOOTH TIPO 1B |
NGS |
MPZ |
CHARCOT-MARIE-TOOTH TIPO 1C |
NGS |
LITAF |
CHARCOT-MARIE-TOOTH TIPO 1D |
NGS |
EGR2 |
CHARCOT-MARIE-TOOTH TIPO 1F |
NGS |
NEFL |
CHARCOT-MARIE-TOOTH TIPO 2A |
NGS |
MFN2 |
CHARCOT-MARIE-TOOTH TIPO 2B |
NGS |
RAB7A |
CHARCOT-MARIE-TOOTH TIPO 2B1 |
NGS |
LMNA |
CHARCOT-MARIE-TOOTH TIPO 2C |
NGS |
TRPV4 |
CHARCOT-MARIE-TOOTH TIPO 2D |
NGS |
GARS |
CHARCOT-MARIE-TOOTH TIPO 2L |
NGS |
HSPB8 |
CHARCOT-MARIE-TOOTH TIPO 2F |
NGS |
HSPB1 |
CHARCOT-MARIE-TOOTH TIPO 2M |
NGS |
DNM2 |
CHARCOT-MARIE-TOOTH TIPO 2K |
NGS |
GDAP1 |
CHARCOT-MARIE-TOOTH TIPO 2N |
NGS |
AARS |
CHARCOT-MARIE-TOOTH TIPO 2R |
NGS |
TRIM2 |
CHARCOT-MARIE-TOOTH TIPO 25 |
NGS |
IGHMBP2 |
CHARCOT-MARIE-TOOTH DOMINANTE INTERMEDIA TIPO D |
NGS |
YARS |
CHARCOT-MARIE-TOOTH RECESIVA INTERMEDIA TIPO D |
NGS |
COX6A1 |
CHARCOT-MARIE-TOOTH DOMINANTE LIGADA AL X |
NGS |
GJB1 |
CHARCOT-MARIE-TOOTH TIPO 4B2 |
NGS |
SBF2 |
CHARCOT-MARIE-TOOTH TIPO 4B3 |
NGS |
SBFF1 |
CHARCOT-MARIE-TOOTH TIPO 4C |
NGS |
SH3TC2 |
CHARCOT-MARIE-TOOTH TIPO 4D |
NGS |
NDRG1 |
CHARCOT-MARIE-TOOTH TIPO 4F |
NGS |
PRX |
CHARCOT-MARIE-TOOTH TIPO 4G |
NGS |
HK1 |
CHARCOT-MARIE-TOOTH TIPO 4H |
NGS |
FGD4 |
CHARCOT-MARIE-TOOTH TIPO 4J |
NGS |
FIG4 |
CHARCOT-MARIE-TOOTH RECESIVA INTERMEDIA TIPO B |
NGS |
KARS |
CHARCOT-MARIE-TOOTH RECESIVA LIGADA AL X TIPO 5 |
NGS |
PRPS1 |
CHARCOT-MARIE-TOOTH TIPO 4K |
NGS |
SURF1 |
SÍNDROME DE DEJERINE-SOTTAS (4 Genes) |
NGS |
EGR2, MPZ, PMP22, PRX |
ELA y ELP (29 Genes) |
NGS |
ALS2, ANG, CCNF, CHCHD10, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, HSPB1, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, UBQLN2, VAPB, VCP |
SUSCEPTIBILIDAD A ELA (7 Genes) |
NGS |
DCTN1, KIF5A, MTMR2, NEFH, NEK1, PLEKHG5, PRPH |
ATROFIA MUSCULAR ESPINAL (9 Genes) |
NGS |
ASAH1, ATP7A, BICD2, CHCHD10, DNAJB2, DYNC1H1, SIGMAR1, UBA1, VAPB |
HIPOACUSIAS HEREDITARIAS |
SÍNDROME BOR (BRANQUIO-OTO-RENAL) (3 GENES) |
NGS |
EYA1, SIX1, SIX5 |
DETERIORO AUDITIVO NO SINDRÓMICO AUTOSÓMICO DOMINANTE (38 GENES) |
NGS |
ACTG1, ATP6V1B2, CCDC50, CEACAM16, COCH, COL11A2, CRYM, GSDME, DIABLO, DIAPH1, DIAPH3, DSPP, EYA4, GJB2, GJB3, GJB6, GSDME, GRHL2, HOMER2, KCNQ4, KITLG, MIR96, MCM2, MYH14, MYH9, MYO6, MYO7A, NLRP3, OSBPL2, P2RX2, POU4F3, SIX1, SLC17A8, TBC1D24, TECTA, TJP2, TMC1, WFS1 |
DETERIORO AUDITIVO NO SINDRÓMICO AUTOSÓMICO RECESIVO (60 GENES) |
NGS |
ADCY1, ATP2B2, BDP1, BSND, CABP2, CDH23, CIB2, CLDN14, COL11A2, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB6, GPSM2, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOG, OTOGL, OTOA, OTOF, PCDH15, PJVK, PNPT1, PTPRQ, RIPOR2 , RDX, SERPINB6, SLC26A4, SLC26A5, STRC, SYNE4, TECTA, TBC1D24,TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WHRN |
DETERIORO AUDITIVO NO SINDRÓMICO LIGADO AL X (5 GENES) |
NGS |
AIFM1, COL4A6, POU3F4, PRPS1, SMPX |
SÍNDROME ADCADN |
NGS |
DNMT1 |
SÍNDROME DE ALPORT (3 GENES) |
NGS |
COL4A3, COL4A4, COL4A5 |
SÍNDROME DE BARAITSER-WINTER |
NGS |
ACTB |
SÍNDROME DE BARTTER (2 GENES) |
NGS |
CLCNKA, CLCNKB |
SÍNDROME DE BROWN-VIALETTO-VAN LAERE (2 GENES) |
NGS |
SLC52A2, SLC52A3 |
SÍNDROME CAPOS |
NGS |
ATP1A3 |
SÍNDROME CHARGE (2 Genes) |
NGS |
CHD7, SEMA3E |
SÍNDROME DE ALSTROM |
NGS |
ALMS1 |
SÍNDROME DE DONNAI-BARROW |
NGS |
LRP2 |
SÍNDROME EHLMRS |
NGS |
SPATA5 |
SÍNDROME ESPÓNDILO-OCULAR CON FRAGILIDAD ÓSEA, CATARATAS Y DEFECTOS AUDITIVOS |
NGS |
XYLT2 |
SÍNDROME HDRS |
NGS |
GATA3 |
SÍNDROME DE LEOPARD (3 GENES) |
NGS |
BRAF, PTPN11, RAF1 |
SÍNDROME DE MEDNIK |
NGS |
AP1S1 |
SÍNDROME DE MEGDHEL |
NGS |
SERAC1 |
SÍNDROME DE MOHR-TRANEBJAERG |
NGS |
TIMM8A |
SÍNDROME DE PERRAULT (4 GENES) |
NGS |
CLPP, HARS2, HSD17B4, LARS2 |
SÍNDROME PHARC (POLINEUROPATÍA-HIPOACUSIA-ATAXIA-RETINITIS PIGMENTOSA-CATARATAS) |
NGS |
ABHD12 |
SÍNDROME DE STICKLER (6 GENES) |
NGS |
COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3 |
SÍNDROME DE USHER (10 GENES) |
NGS |
CLRN1, PDZD7, USH2A, ADGRV1, MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2 |
SÍNDROME DE WAARDENBURG (6 GENES) |
NGS |
PAX3, MITF, EDNRB, EDN3, SOX10, SNAI2 |
SÍNDROME DE WOLFRAM (2 GENES) |
NGS |
CISD2, WFS1 |
SÍNDROME DE WOODHOUSE-SAKATI |
NGS |
DCAF17 |
SÍNDROME DE AYME-GRIPP |
NGS |
MAF |
TRASTORNO DE LA BIOGÉNESIS PEROXISOMAL (5 GENES) |
NGS |
PEX2, PEX26, PEX3, PEX5, PEX6 |