Oncology Panel archivos - Sistemas Genómicos

Disease	Modality	Delivery	Reference	Data sheet
Tumor predisposition syndrome	Detection of deletions and/or duplications in BAP1 gene by MLPA	28 days	LV3080	+Info
Familial Aggregation Study	Detection of deletions and/or duplicationsin TP53 gene by MLPA	28 days	LV2974	+Info
Gastric Cáncer	Detection of deletions and/or duplicationsin TP53 gene by MLPA	28 days	LV2974	+Info
Hereditary Breast and Ovarian Cáncer	Detection of deletions and/or duplicationsin TP53 gene by MLPA	28 days	LV2974	+Info
Li Fraumeni Syndrome	Detection of deletions and/or duplicationsin TP53 gene by MLPA	28 days	LV2974	+Info
Pancreatic Cancer (Sd Peutz Jeghers, Pancreatitis)	Detection of deletions and/or duplicationsin TP53 gene by MLPA	28 days	LV2974	+Info
Hereditary Breast and Ovarian Cáncer	Detection of large deletions and/or duplications in BRCA1 and BRCA2 genes by MLPA	28 days	LV0187	+Info
Hereditary Breast and Ovarian Cáncer	Detection of large deletions and/or duplications in BRCA1 gene by MLPA	28 days	LV1212	+Info
Hereditary Breast and Ovarian Cáncer	Detection of large deletions and/or duplications in BRCA2 gene by MLPA	28 days	LV1213	+Info
Telangiectasia ataxia	Detection of large deletions and/or duplications in the ATM gene by MLPA	28 days	LV1463	+Info
Peutz-Jeghers syndrome	Detection of large deletions and/or duplications in the STK11 gene by MLPA	28 days	LV1574	+Info
Tuberous Sclerosis	Detection of large deletions and/or duplications in the TSC1 gene by MLPA	28 days	LV0933	+Info
Tuberous Sclerosis	Detection of large deletions and/or duplications in the TSC2 gene by MLPA	28 days	LV0934	+Info
Cowden syndrome	Detection of large deletions and/or duplicationsin PTEN gene by MLPA	28 days	LV1351	+Info
Fanconi Anemia	Detection of large deletions and/orduplications in the FANCA gene by MLPA	35 days	LV1586	+Info
Hereditary Breast and Ovarian Cáncer	Detection of the c.156_157insAlu mutation in the BRCA2 gene	28 days	LV4126	+Info
Telangiectasia ataxia	geneNGS and Sanger sequencing of theATM	42 days	LV1015	+Info
Hereditary Breast and Ovarian Cáncer	MAMMA GeneProfile: NGS and screening of deletions / duplications in the BRCA1 and BRCA2 genes. Sanger sequencing confirmation of pathological variants and MLPA confirmation of genomic rearrangements previously detected.	28 days	LV1353	+Info
Juvenile Polyposis Syndrome	MLPA detection of large deletions and duplications in the SMAD4 and BMPR1A genes	28 days	LV1354	+Info
Adenomatous polyposis, familial	NGS and bioinformatic CNVs screening, 12-gene panel: APC, AXIN2, BRCA1, BRCA2, MLH1, MSH2, MSH6, MUTYH, NTHL1, POLD1, POLE, SCG5	42 days	LV4358	+Info
Pancreatic Cancer (Sd Peutz Jeghers, Pancreatitis)	NGS and bioinformatic CNVs screening, 13-gene panel: APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53 \|Sanger sequencing of the PRSS1 gene	42 days	LV4354	+Info
Pheochromocytoma / Paraganglioma	NGS and bioinformatic CNVs screening, 13-gene panel: EPAS1, FH, KIF1B, MAX, MDH2, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL	42 days	LV4356	+Info
Gastric Cáncer, diffuse	NGS and bioinformatic CNVs screening, 14-gene panel: APC, BRCA1, BRCA2, CDH1, CHEK2, CTNNA1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2, TP53	42 days	LV4361	+Info
Prostate Cáncer, hereditary	NGS and bioinformatic CNVs screening, 14-gene panel: ATM, BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, MSR1, NBN, PALB2, PMS2, RAD51D, TP53	42 days	LV4278	+Info
Fanconi anemia	NGS and bioinformatic CNVs screening, 20-gene panel: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2	42 days	LV4331	+Info
Hereditary Breast and Ovarian Cáncer	NGS and bioinformatic CNVs screening, 22-gene panel: ATM, BARD1, BLM, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2, XRCC3	42 days	LV4353	+Info
Hereditary Breast and Ovarian Cáncer	NGS and bioinformatic CNVs screening, 24-gene panel: ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2, XRCC3	42 days	LV4339	+Info
Gastrointestinal stromal tumor, familial (GIST)	NGS and bioinformatic CNVs screening, 7-gene panel: KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD	42 days	LV4362	+Info
Nervous System/Brain Tumors	NGS and bioinformatic CNVs screening, 7-gene panel: NF1, NF2, POT1, RB1, TSC1, TSC2, VHL	42 days	LV4359	+Info
Melanoma and Tumor predisposition syndrome	NGS and bioinformatic CNVs screening, 8-gene panel: BAP1, CDK4, CDKN2A, MC1R, MITF, POT1, TERT, XRCC3	42 days	LV4357	+Info
Renal Cancer (clear cell renal cancer, papillary renal cancer, Birt-Hogg-Dube syndrome)	NGS and bioinformatic CNVs screening, 8-gene panel: DIS3L2, FH, FLCN, HNF1A, HNF1B, MET, SDHB, VHL	42 days	LV4355	+Info
Colorectal Cáncer, Hereditary Nonpolyposis	NGS and bioinformatic CNVs screening, 9-gene panel: BUB1, EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, POLD1, POLE	42 days	LV4282	+Info
Tuberous Sclerosis	NGS of 2 gene panel:TSC1, TSC2	42 days	LV3172	+Info
Juvenile polyposis syndrome	NGS of 4 gene panel: BMPR1A, GREM1, PTEN, SMAD4and MLPA confirmation of CNVs previously detectedin BMPR1A, PTEN, SMAD4 genes	42 days	LV3630	+Info
Xeroderma Pigmentosum, COFS, Cockayne and De Sanctis-Cacchione syndromes	NGS of 10 gene panel: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, POLH, XPA, XPC	42 days	LV3637	+Info
Hereditary Cáncer Syndromes	NGS of 111 gene panel:APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A,BRCA1, BRCA2, BRIP1, BUB1, CDH1, CDK4, CDKN1B,CDKN2A, CHEK2, DDB2, DICER1, DIS3L2, DKC1, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5,ERCC6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF,FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GFI1,GREM1, HOXB13, JAGN1, KIF1B, KIT, MAX, MDH2, MEN1, MET, MITF, MLH1, MNX1, MSH2, MSH6, MSR1, MUTYH, NBN, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2,PARN, PDGFRA, PMS1, POLD1, POLE, POLH, POT1,PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RTEL1, SCG5,SLX4, SMAD4, SMARCA4, STK11, SUFU, TERC, TERT,TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL,VPS45, WAS, WRN, WT1, XPA, XPC, XRCC2	56 days	LV3651	+Info
Syndromes in Pediatric Oncology: Wilms, Bloom, Sotos, Nijmgen, Perlman, Currarino, Rothmund-Thomson, Werner.	NGS of 11 gene panel: BLM, NBN, NSD1, RAD50, WT1, DIS3L2, MNX1, NFIX, RECQL4, WRN, SMARCA4	42 days	LV3644	+Info
Ataxia Telangiectasia	NGS of 2 gene panel: ATM, ATR.	42 days	LV3627	+Info
Sarcoma, familial	NGS of 2 gene panel: DICER1, POT1.	42 days	LV3649	+Info
Basal cell nevus syndrome, Gorlin syndrome	NGS of 2 gene panel: PTCH1, SUFU	42 days	LV3645	+Info
Familial Aggregation Study	NGS of 40 gene panel: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, GREM1, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PDGFRA, PMS1, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SCG5, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL .	42 days	LV3650	+Info
Li Fraumeni, Li Fraumeni like, syndromes	NGS of 4 gene panel: CHEK2, TP53, POT1, DICER1,	42 days	LV3642	+Info
Hamartoma tumor Polyposis syndromes	NGS of 5 gene panel: BMPR1A, SMAD4, PTEN, STK11, DIS3L2.	42 days	LV3643	+Info
Neutropenia, severe congenital	NGS of 6 gene panel: ELANE, G6PC3, GFI1, JAGN1, VPS45, WAS and Sanger sequencing of the HAX1 gene	42 days	LV3638	+Info
Endocrine tumors ( Pituitary adenoma, MEN2/ CMT, MEN1, Von Hippel Lindau, Carney complex)	NGS of 7 gene panel: AIP, CDKN1B, RET, MEN1, VHL, PRKAR1A, DICER1	42 days	LV3634	+Info
Dyskeratosis congenita	NGS of 9 gene panel: ACD, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2	42 days	LV3631	+Info
Retinoblastoma	NGS of the RB1 gene	28 days	LV3648	+Info
Adenomatous polyposis, familial	Sanger Sequencing of the APC gene	42 days	LV0233	+Info
Tumor predisposition syndrome	Sanger Sequencing of the BAP1 gene	Consult	LV2964	+Info
Juvenile Polyposis Syndrome	Sanger sequencing of the BMPR1A gene	Consult	LV1326	+Info
Gastric Cáncer, diffuse	Sanger Sequencing of the CDH1 gene	56 days	LV0311	+Info
Fanconi Anemia	Sanger Sequencing of the FANCA gene	42 days	LV1847	+Info
Birt-Hogg-Dube syndrome	Sanger Sequencing of the FLCN gene	56 days	LV2566	+Info
Prostate Cancer, familial	Sanger sequencing of the HOXB13 gene	42 days	LV4222	+Info
Muir-Torre syndrome	Sanger Sequencing of the MLH1 gene	42 days	LV0182	+Info
Colorectal adenomatous polyposis, autosomal recessive, with pilomatric	Sanger sequencing of the MUTYH gene	42 days	LV0787	+Info
Cowden syndrome	Sanger sequencing of the PIK3CA gene	49 days	LV3284	+Info
Colorectal cancer, hereditary nonpolyposis, type 4	Sanger Sequencing of the PMS2 gene	56 days	LV2567	+Info
Cowden syndrome	Sanger sequencing of the PTEN gene	42 days	LV0804	+Info
Hereditary Breast and Ovarian Cáncer	Sanger Sequencing of the RAD51C gene	Consult	LV1184	+Info
Juvenile Polyposis Syndrome	Sanger Sequencing of the SMAD4 gene	Consult	LV2629	+Info
Peutz-Jeghers syndrome	Sanger Sequencing of the STK11 gene	35 days	LV0150	+Info
Li Fraumeni Syndrome	Sanger sequencing of the TP53 gene	35 days	LV0706	+Info
Xeroderma Pigmentosum	Sanger Sequencing of the XPA gene	Consult	LV0989	+Info
Xeroderma Pigmentosum	Sanger Sequencing of the XPC gene	56 days	LV0988	+Info
Pheochromocytoma / Paraganglioma	Sanger sequencing of the SDHA, SDHB, SDHC, SDHD genes.	63 days	LV3833	+Info
Renal Cancer (clear cell renal cancer, papillary renal cancer, Birt-Hogg-Dube syndrome)	Sanger sequencing of the SDHA, SDHB, SDHC, SDHD genes.	63 days	LV3833	+Info

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