TEST
GENÉTICO |
Enfermedad |
GENES |
REFERENCIA |
PROCEDIMIENTO |
PLAZO* |
NIMSeq® Cáncer de mama/ovario/endometrio
familiar |
Cáncer de mama/ovario/endometrio familiar |
APC, BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1,
ATM, BARD1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C,
RAD51D |
SEQ1052 |
NGS |
45 |
OncoNIM® SEQ BRCA1/BRCA2 |
Cáncer de mama/ovario familiar |
BRCA1, BRCA2 |
SEQ1080 |
NGS |
30 |
OncoNIM® SEQ BRCA1/BRCA2 PREVENT |
Cáncer
de mama/ovario familiar |
BRCA1,
BRCA2 |
SEQ1081 |
NGS |
30 |
(incluye mutaciones
puntuales, indels y CNVs) |
NIMSeq® Cáncer de endometrio familiar |
Cáncer de endometrio familiar |
MLH1, MSH2, MSH6, PMS2, EPCAM, TP53, PTEN, STK11 |
SEQ1067 |
NGS |
45 |
NIMSeq® Cáncer de ovario |
Cáncer de ovario familiar |
BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, TP53, STK11, BRIP1,
RAD51C, RAD51D |
SEQ1070 |
NGS |
45 |
NIMSeq® Poliposis adenomatosa familiar |
Poliposis adenomatosa familiar |
APC, AXIN2, EZH2, GREM1, MUTYH, NTHL1, POLD1, POLE, PTEN, SMAD4,
STK11 |
SEQ1343 |
NGS |
45 |
NIMSeq® Poliposis juvenil |
Poliposis juvenil |
BMPR1A, GREM1, PTEN, SMAD4, STK11 |
SEQ1344 |
NGS |
45 |
NIMSeq® Cáncer colorrectal familiar |
Cáncer Colorrectal familiar |
APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MLH3, MSH2,
MSH6, MUTYH, PMS1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53 |
SEQ1065 |
NGS |
45 |
NIMSeq® Cáncer gástrico familiar |
Cáncer gástrico familiar |
APC, CDH1, CHEK2, CTNNA1, EPCAM, KIT, MLH1, MSH2, MSH6, MUTYH,
PDGFRA, PMS1, PMS2, TP53, STK11, BMPR1A, SMAD4 |
SEQ1053 |
NGS |
45 |
NIMSeq® Cáncer tiroideo familiar |
Cáncer tiroideo familiar |
APC, CHEK2, DICER1, HABP2, MEN1, NTRK1, PRKAR1A, PTEN, RET,
SDHB, SDHD, TP53, WRN |
SEQ1057 |
NGS |
45 |
NIMSeq® Cáncer tiroideo familiar no medular |
Cáncer tiroideo familiar No-medular |
APC, DICER1, HABP2, PRKAR1A, PTEN, SEC23B, WRN |
SEQ1345 |
NGS |
45 |
NIMSeq® Cáncer paratiroideo familiar |
Carcinoma paratiroideo familiar |
CASR, CDC73, CDKN1B, MEN1, RET |
SEQ1058 |
NGS |
45 |
NIMSeq® Neoplasia endocrina múltiple familiar |
Neoplasia endocrina múltiple familiar |
MEN1, RET, CDKN1B |
SEQ1056 |
NGS |
45 |
NIMSeq® Cáncer endocrino familiar ampliado |
Cáncer endocrino familiar ampliado |
APC, CASR, CDC73, CDKN1B, CHEK2, DICER1, FH, HABP2, KIF1B, MAX,
MEN1, NF1, NTRK1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B,
TMEM127, TP53, VHL, WRN |
SEQ1069 |
NGS |
45 |
NIMSeq® Feocromocitoma familiar |
Feocromocitoma familiar |
CDC73, CDKN1B, FH, KIF1B, MAX, NF1, PRKAR1A, RET, SDHA, SDHAF2,
SDHB, SDHC, SDHD, TMEM127, VHL |
SEQ1060 |
NGS |
45 |
NIMSeq® Cáncer pancreático familiar |
Cáncer pancreático familiar |
ATM, APC, BRCA1, BRCA2, BMPR1A, SMAD4, CDKN2A, CDK4, MLH1, MSH2,
MSH6, PALB2, PRSS1, STK11, TP53, PMS2, EPCAM |
SEQ1066 |
NGS |
45 |
NIMSeq® Cáncer renal familiar |
Cáncer renal familiar |
FH, FLCN, HNF1A, HRAS, MET, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB,
SDHD, TSC1, TSC2, VHL |
SEQ1054 |
NGS |
45 |
NIMSeq® Tumor de Wilms |
Tumor de Wilms |
AMER1, ARID1A, BLM, BRCA2, BUB1B, CDC73, CHD4, COL6A3, CTNNB1,
DGCR8, DICER1, DIS3L2, EP300, GPC3, GPC4, HACE1, HDAC4, NF1, PALB2, PIK3CA,
REST, RLIM, SIX1, SIX2, SMARCA4, TP53, TRIM37, WT1, TRIM28, TRIM37, WT1, XPO5 |
SEQ1346 |
NGS |
45 |
NIMSeq® Predisposición a patologías mieloides |
Predisposición a patologías mieloides |
ACD, ANKRD26, CBL, CEBPA, DDX41, DKC1, ETV6, GATA2, IKZF1, KRAS,
PAX5, PTPN11, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SRP72, TERT, TINF2, TP53 |
SEQ1347 |
NGS |
45 |
NIMSeq® Predisposición a hemopatías pediátricas |
Predisposición a hemopatías pediátricas |
ATM, BLM, CEBPA, EPCAM, GATA2, HRAS, MLH1, MSH2, MSH6, NBN, NF1,
PMS2, RUNX1, TP53 |
SEQ1348 |
NGS |
45 |
NIMSeq® Síndromes hereditarios con fallo
de médula ósea |
Síndromes hereditarios con fallo de médula
ósea |
BRCA2, BRIP1, CSF3R, CTC1, DKC1, ELANE, ERCC4, FANCA, FANCB,
FANCC, FANCD2, FANCE, FANCF, FANCG, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA2,
GFI1, HAX1, MPL, NHP2, NOP10, PALB2, RAD51C, RBM8A, RPL11, RPL35A, RPL5,
RPS10, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SBF2, SLX4, SLX4,
SRP72, TERT, TINF2, USB1, VPS45, WAS, WRAP53, XRCC2 |
SEQ1349 |
NGS |
45 |
NIMSeq® Anemia de Fanconi |
Anemia de Fanconi |
BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE,
FANCF, FANCG, FANCI, FANCL, PALB2, RAD51C, SLX4, UBE2T, XRCC2 |
SEQ1637 |
NGS |
45 |
NIMSeq® Eritorblastopenia congénita de
Blackfan-Diamond y diagnóstico
diferencial |
Eritorblastopenia congénita de Blackfan-Diamond y diagnóstico diferencial |
GATA1, RPL11, RPL15, RPL19, RPL26, RPL35A, RPL5, RPS10, RPS15A,
RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2 |
SEQ1350 |
NGS |
45 |
NIMSeq® Cáncer del sistema nervioso/cerebral (glioma) |
Cáncer
del sistema nervioso/cerebral (glioma) |
ATM, NF1, NF2, POT1, SMARCE1, SUFU, WRN |
SEQ1354 |
NGS |
45 |
NIMSeq® Cáncer del sistema nervioso central |
Cáncer
del sistema nervioso central |
APC, DICER1, EPCAM, HRAS, LZTR1, MLH1, MSH2, MSH6, NF1, NF2,
PMS2, POT1, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53,
TSC1, TSC2, VHL, WRN |
SEQ1355 |
NGS |
45 |
NIMSeq® Cáncer de Próstata Familiar |
Cáncer de Próstata familiar |
BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2,
TP53 |
SEQ1055 |
NGS |
45 |
NIMSeq® Cáncer de hueso y tejido blando (Sarcoma
y osteosarcoma) |
Cáncer de hueso y tejido blando (Sarcoma y osteosarcoma) |
APC, BLM, CDKN1C, DICER1, EPCAM, FH, FN1, HRAS, KIT, MLH1, MSH2,
MSH6, NBN, PDGFRA, PMS2, PRKAR1A, PTCH1, RB1, SDHA, SDHB, SDHC, SDHD, SUFU,
TP53, WRN |
SEQ1357 |
NGS |
45 |
NIMSeq® Condrosarcoma Familiar |
Condrosarcoma familiar |
EXT1, EXT2 |
SEQ1064 |
NGS |
45 |
NIMSeq® Melanoma Familiar |
Melanoma Familiar |
BRCA2, BAP1, CDK4, CDKN2A, MITF, POT1, PTCH1, TP53, PTEN |
SEQ1063 |
NGS |
45 |
NIMSeq® Cáncer de piel hereditario |
Cáncer de piel hereditario |
BAP1, BRCA1, BRCA2, CDK4, CDKN2A, DDB2, ERCC1, ERCC2, ERCC3,
ERCC4, ERCC5, MITF, POLH, POT1, PTCH1, PTEN, SUFU, TP53, WRN, XPA, XPC |
SEQ1358 |
NGS |
45 |
NIMSeq® Predisposición a tumores sólidos
pediátricos |
Predisposición a tumores sólidos pediátricos |
AIP, ALK, APC, ATM, AXIN2, BAP1, BLM, BMPR1A, BRAF, BRCA2,
BRIP1, BUB1B, CBL, CDC73, CDKN1C, CEBPA, CREBBP, CTC1, DDB2, DICER1, DIS3L2,
DKC1, DNAJC21, EP300, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EZH2, FANCA,
FANCE, FANCG, FERMT1, FH, FLCN, GATA2, GPC3, GPC4, HRAS, KRAS, LZTR1, MAP2K1,
MAP2K2, MAX, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, NRAS, NSD1, NSUN2, PAX5,
PAX6, PHOX2B, PIK3CA, PMS2, POLH, PRF1, PRKAR1A, PTCH1, PTEN, PTPN11, RAF1,
RASA2, RB1, RECQL4, REST, RET, RIT1, RRAS, RTEL1, RUNX1, SBDS, SDHA, SDHAF2,
SDHB, SDHC, SDHD, SHOC2, SMAD4, SMARCA4, SMARCB1, SOS1, SOS2, STK11, SUFU,
TERT, TINF2, TMEM127, TP53, TSC1, TSC2, USB1, VHL, WRN, WT1, XPA, XPC |
SEQ1359 |
NGS |
45 |
NIMSeq® Predisposición al cáncer, múltiples
tipos |
Predisposición al cáncer, múltiples tipos |
APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1,
CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CHEK2, DDB2, DICER1, DKC1, EPCAM, FANCA,
FANCM, FH, FLCN, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MRE11,
MSH2, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE,
POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, SDHA,
SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, SUFU, TERT,
TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, ERCC5, XPA, XPC |
SEQ1049 |
NGS |
45 |
NIMSeq® Predisposición al cáncer ampliado, múltiples tipos |
Predisposición al cáncer ampliado, múltiples tipos |
AIP, ALK, ANKRD26, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM,
BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CBL, CDC73, CDH1, CDK4, CDKN1B,
CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1,
EGFR, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2,
EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM,
FH, FLCN, GATA2, GPC3, GREM1, HNF1A, HOXB13, HRAS, IKZF1, KIT, KITLG, KRAS,
LZTR1, MAP2K1, MAP2K2, MAX, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3,
MSH6, MUTYH, NBN, NF1, NF2, NRAS, NSD1, NSUN2, NTHL1, NTRK1, PALB2, PAX5,
PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRF1, PRKAR1A,
PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL4, REST,
RET, RHBDF2, RIT1, RRAS, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2,
SDHB, SDHC, SDHD, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SOS1, SOS2, SPRED1,
SRP72, STK11, SUFU, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1,
XPA, XPC, XRCC2 |
SEQ1360 |
NGS |
45 |
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(*): Días laborables desde la recepción de la muestra |
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