| Lung Cáncer | ALK rearrangement detection by FISH | 21 days | LV4342 | +Info |
| Solid tumor | BRAF exon 15 screening of frequent mutations by Digital Droplet PCR | 7 days | LV4290 | +Info |
| Common test of all diseases | Chromosome X inactivation analysis | 28 days | LV0222 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome trio with report of clinicallyrelevant findings | 56 days | LV3245 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome duo with report of clinicallyrelevant findings | 56 days | LV3246 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome reanalysis | Consult | LV4169 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome single with report of clinicallyrelevant findings | 56 days | LV3247 | +Info |
| Lung Cáncer | Detection and quantification of p.L858R mutation in the EGFR gene by Digital Droplet PCR | 21 days | LV4204 | +Info |
| Lung Cáncer | Detection and quantification of p.T790M mutation in the EGFR gene by Digital Droplet PCR | 7 days | LV4203 | +Info |
| Familial cancer susceptibility | Detection of deletions and duplications in the PALB2 gene by MLPA | 28 days | LV3989 | +Info |
| Tumor predisposition syndrome | Detection of deletions and/or duplications in BAP1 gene by MLPA | 28 days | LV3080 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of deletions and/or duplications in MLH1 gene by MLPA. | 28 days | LV2547 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of deletions and/or duplications in MSH6 gene by MLPA | 28 days | LV2550 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in SDHB gene by MLPA | 28 days | LV2528 | +Info |
| Paragangliomas | Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA. | 42 days | LV2666 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA. | 42 days | LV2666 | +Info |
| Melanoma and neural system tumor syndrome | Detection of deletions and/or duplicationsin CDKN2A gene by MLPA | 28 days | LV3081 | +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 |
| Parathyroid Carcinoma | Detection of deletions/duplications in the CDC73 gene by MLPA | 28 days | LV4141 | +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 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of large deletions and/or duplications in PMS2 gene by MLPA | 35 days | LV1183 | +Info |
| Telangiectasia ataxia | Detection of large deletions and/or duplications in the ATM gene by MLPA | 28 days | LV1463 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of large deletions and/or duplications in the MLH1 and MSH2 genes by MLPA | 28 days | LV0183 | +Info |
| Gorlin, syndrome | Detection of large deletions and/or duplications in the PTCH1 gene by MLPA | 28 days | LV2175 | +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 |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Hereditary Breast and Ovarian Cáncer | Detection of the c.156_157insAlu mutation in the BRCA2 gene | 28 days | LV4126 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed CLINICAL EXOME up to 200 genes with diagnostic report (capture of 58Mb) | 42 days | LV4152 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed KEY EXOME up to 200 genes with diagnostic report (capture of 17Mb) | 42 days | LV4150 | +Info |
| Lung Cáncer | EGFR Mutation screening by digital droplet PCR | 7 days | LV4291 | +Info |
| Solid tumor | EGFR Mutation screening by digital droplet PCR | 7 days | LV4291 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed CLINICAL EXOME to CLINICAL EXOME with diagnostic report (capture of 58Mb) | 42 days | LV4132 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed KEY EXOME to Clinical KEY EXOME with diagnostic report (capture of 17Mb) | 42 days | LV4135 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of exome analysis to relevantvariants located in research genes. | 42 days | LV3607 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother and father without report. | 28 days | LV4125 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother or father without report. | 28 days | LV4124 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, without report. | 28 days | LV4123 | +Info |
| Telangiectasia ataxia | geneNGS and Sanger sequencing of theATM | 42 days | LV1015 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Genetic Linkage Analysis | Haplotypes analysis (includes three familymembers and four genetic markers) | Consult | LV0036 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| Solid tumor | KRAS Mutation screeningby digital droplet PCR | 7 days | LV4298 | +Info |
| Familial cancer susceptibility | Large deletions and duplications detection in theCHEK2 gene by MLPA | 35 days | LV3769 | +Info |
| Medullary thyroid carcinoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Multiple Endocrine Neoplasia, type 2 | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Pheochromocytoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Multiple Endocrine Neoplasia type I | Large deletions and duplications detections in the MEN1 and AIP genes by MLPA | 28 days | LV3481 | +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 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Microsatellite instability analysis | 28 days | LV0181 | +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 |
| Cutaneous telangiectasia and cancer syndrome, familial | NGS and Sanger Sequencing of theATRgene | 42 days | LV1733 | +Info |
| Tuberous Sclerosis | NGS of 2 gene panel:TSC1, TSC2 | 42 days | LV3172 | +Info |
| Solid tumor | NGS of 2 genes in FFPE | 35 days | LV4348 | +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 |
| Solid tumor | NGS of a 161 gene panel associated with solid tumors and treatment association.
Complete genes: ARID1A, ATM, ATR, ATRX, BAP1, CDK12, CDKN1B, CHEK1, CREBBP, FANCA, FANCD2, FANCI, FBXW7, MLH1, MRE11A, MSH2, MSH6, NBN, NF2, NOTCH2, NOTCH3, PALB2, PIK3R1, PMS2, POLE, PTCH1, RAD50, RAD51, RAD51C, RAD51D, RNF43, SETD2, SLX4, SMARCA4, SMARCB1, STK11, TP53 .
Specific mutations (hotspots): ARAF, BTK, CBL, CHEK2, CSF1R, CTNNB1, DDR2, ERBB3, ERCC2, EZH2, FOXL2, GATA2, GNA11, GNAQ, GNAS, H3F3A, HIST1H3B, HNF1A, HRAS, IDH1, IDH2, JAK1, JAK3, KDR, KNSTRN, MAGOH, MAP2K1, MAP2K2, MAP2K4, MAPK1, MAX, MED12, MTOR, MYD88, NFE2L2, NRAS, PPP2R1A, PTPN11, RAC1, RHEB, RHOA, SF3B1, SMAD4, SMO, SPOP, SRC, STAT3, TOP1, U2AF1, XPO1 .
Copy number variation (CNVs): CCND2, CCND3, CCNE1, CDK2, FGF19, FGF3, IGF1R, MDM2, MYCL, RICTOR
.Relocations (translocations/fusions): ERG, ETV1, ETV4, ETV5, FGR, MYB, MYBL1, NOTCH4, NRG1, NUTM1, PRKACA, PRKACB, RELA, RSPO2, RSPO3 | 35 days | LV4350 | +Info |
| Solid tumor | NGS of a 198 gene panel associated with pediatric tumors, sarcomas and haematological neoplasms. Complete genes: APC, ARID1A, ARID1B, ATRX, CDKN2A, CDKN2B, CEBPA, CHD7, CRLF1, DDX3X, DICER1, EBF1, EED, FAS, GATA1, GATA3, GNA13, ID3, IKZF1, KDM6A, MYOD1, NF1, NF2, PHF6, PRPS1, PTCH1, PTEN, RB1, SMARCA4, SMARCB1, SOCS2, SUFU, SUZ12, TET2, TP53, TSC1, TSC2, WT1, XIAP. Specific mutations : ACVR1, AKT1, ASXL1, ASXL2, CALR, CBL, CCND3, CCR5, CSF3R, CTNNB1, DAXX, DNMT3A, EP300, ERBB4, ESR1, EZH2, FASLG, FBXW7, GATA2, GNAQ, H3F3A, HDAC9, HIST1H3B, HRAS, IDH1, IDH2, IL7R, JAK1, JAK3, KDM4C, KDR, MAP2K1, MPL, MSH6, MTOR, NCOR2, NRAS, NT5C2, PIK3R1, PPM1D, PTPN11, RHOA, SETBP1, SETD2, SH2B3, SH2D1A, SMO, STAT3, STAT5B, TERT, TPMT, USP7, ZMYM3. Copy number variation : CDK6, GLI2, MDM2, MDM4. Relocations (translocations/fusions): BCL11B, BCOR, BCR, CAMTA1, DUSP22, ETV6, EWSR1, FOSB, FUS, GLIS2, HMGA2, KAT6A, KMT2A, KMT2B, KMT2C, LMO2, MAML2, MAN2B1, MECOM, MEF2B, MKL1, MLLT10, MN1, MYB, MYBL1, MYH11, MYH9, NCOA2, NCOR1, NOTCH2, NOTCH4, NR4A3, NTRK1, NTRK2, NTRK3, NUP214, NUP98, NUTM1, NUTM2B, PAX3, PAX7, PDGFB, PLAG1, RANBP17, RECK, RELA, ROS1, SS18, SSBP2, STAG2, STAT6, TAL1, TFE3, TP63, TSLP, TSPAN4, UBTF, USP6, YAP1, ZMYND11, ZNF384. Expression changes: BCL2, BCL6, TOP2A | 35 days | LV4228 | +Info |
| Family cancer predisposition | NGS of a 29-gene panel: APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Sanger sequencing, and detection of deletions and duplications by MLPA in the PMS2 gene. | 42 days | LV4070 | +Info |
| Solid tumor | NGS of one gene in FFPE | 35 days | LV4347 | +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 |
| Brooke-Spiegler syndrome | Sanger Sequencing of CYLD gene | 42 days | LV2279 | +Info |
| Congenital amegakaryocytic thrombocytopenia | Sanger sequencing of exon 12 of the MPL gene | 28 days | LV3456 | +Info |
| Myelofibrosis | Sanger sequencing of exon 12 of the MPL gene | 28 days | LV3456 | +Info |
| Thrombocytosis, benign familial microcytic | Sanger sequencing of exon 12 of the MPL gene | 28 days | LV3456 | +Info |
| Familial Paraganglioma 4 | Sanger sequencing of SDHB gene | 35 days | LV0695 | +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 |
| Juvenile myelomonocytic leukemia | Sanger sequencing of the CBL gene | 46 days | LV3565 | +Info |
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Sanger sequencing of the CBL gene | 46 days | LV3565 | +Info |
| Parathyroid Carcinoma | Sanger Sequencing of the CDC73 (HRPT2) gene | 49 days | LV1179 | +Info |
| Gastric Cáncer, diffuse | Sanger Sequencing of the CDH1 gene | 56 days | LV0311 | +Info |
| Melanoma, familial | Sanger Sequencing of the CDKN2A (p16) gene | 42 days | LV0223 | +Info |
| Pleuropulmonary blastoma family tumor susceptibility syndrome | Sanger sequencing of the DICER1 gene | 70 days | LV3388 | +Info |
| Fanconi Anemia | Sanger Sequencing of the FANCA gene | 42 days | LV1847 | +Info |
| Hereditary leiomyomatosis and renal cell cancer syndrome | Sanger sequencing of the FH gene | 42 days | LV0775 | +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 |
| Glioma, susceptibility to, somatic | Sanger sequencing of the IDH1 gene | 32 days | LV3563 | +Info |
| Astrocytoma, Oligoastrocytoma, Oligodendroglioma | Sanger sequencing of the IDH2 gene | 32 days | LV3564 | +Info |
| Multiple Endocrine Neoplasia type I | Sanger sequencing of the MEN1 gene | 35 days | LV0758 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Sanger Sequencing of the MLH1 gene | 42 days | LV0182 | +Info |
| Muir-Torre syndrome | Sanger Sequencing of the MLH1 gene | 42 days | LV0182 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 1 | Sanger Sequencing of the MSH2 gene | 42 days | LV0340 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 5 | Sanger sequencing of the MSH6 gene | 42 days | LV0707 | +Info |
| Adenomatous polyposis 2, familial | Sanger sequencing of the MUTYH gene | 42 days | LV0787 | +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 |
| Colorectal cancer, susceptibility to, 10 | Sanger Sequencing of the POLD1 gene | 46 days | LV2977 | +Info |
| Gorlin, syndrome | Sanger Sequencing of the PTCH1 gene | 42 days | LV0336 | +Info |
| Basal cell nevus syndrome | Sanger sequencing of the PTCH2 gene | 42 days | LV3530 | +Info |
| Medulloblastoma, desmoplastic | Sanger sequencing of the PTCH2 gene | 42 days | LV3530 | +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 |
| Ovarian Cáncer | Sanger sequencing of the RAD51D gene | Consult | LV1414 | +Info |
| Multiple Endocrine Neoplasia, type 2 | Sanger Sequencing of the RET gene | 42 days | LV0225 | +Info |
| Mitochondrial respiratory chain complex II deficiency | Sanger sequencing of the SDHA gene | 84 days | LV3292 | +Info |
| Paragangliomas 2 | Sanger sequencing of the SDHAF2 gene | 32 days | LV3616 | +Info |
| Gastrointestinal stromal tumor | Sanger sequencing of the SDHC gene | 28 days | LV3236 | +Info |
| Familial Paraganglioma 1 | Sanger Sequencing of the SDHD gene | 35 days | LV0484 | +Info |
| Myelodysplastic syndrome, somatic | Sanger sequencing of the SF3B1 gene | 84 days | LV3288 | +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 |
| Basal cell nevus syndrome | Sanger sequencing of the SUFU gene | 42 days | LV3529 | +Info |
| Medulloblastoma, desmoplastic | Sanger sequencing of the SUFU gene | 42 days | LV3529 | +Info |
| Myelodysplastic syndrome, somatic | Sanger sequencing of the TET2 gene | 46 days | LV3566 | +Info |
| Li Fraumeni Syndrome | Sanger sequencing of the TP53 gene | 35 days | LV0706 | +Info |
| Thiopurine S-methyltransferase deficiency | Sanger sequencing of the TPMT gene | 32 days | LV3741 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +Info |
| Wilms tumor, type 1 | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +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 |
| Confirmation of the effect of Specific Mutation in mRNA | Sequencing of a specific fragment of complementary DNA corresponding to messenger RNA by RT-PCR | 56 days | LV1682 | +Info |
| Common test of all diseases | Study of prenatal maternal contamination | Consult | LV1140 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (duo) | 56 days | LV3755 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (trio) | 56 days | LV3756 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted exome up to 200 genes | 56 days | LV3754 | +Info |
