| Risk for gastrointestinal disorders | Analysis of informative SNPs in ALDOB, LCT, MCM6 and SI genes | 28 days | LV4054 | +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 |
| Alagille, type 1 syndrome | Detection of deletions and duplications in the JAG1 gene by MLPA | 28 days | LV2302 | +Info |
| Wilson disease | Detection of deletions and/or duplications in ATP7B gene by MLPA. | 28 days | LV2927 | +Info |
| Mucopolysaccharidosis Type II | Detection of deletions and/or duplications in IDS gene by MLPA | 28 days | LV2513 | +Info |
| Hypercholesterolemia, familial | Detection of deletions and/or duplications in LDLR gene by MLPA | 28 days | LV2464 | +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 |
| Cystic Fibrosis | Detection of deletions and/or duplications in theCFTR gene by MLPA. | 42 days | LV2663 | +Info |
| Myotonia congenita, recessive | Detection of deletions and/or duplications inCLCN1 gene by MLPA. | 28 days | LV2645 | +Info |
| Gastric 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 |
| Hyperoxaluria, primary, type I (HP1) | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD, HMBS, UROS, UROD, CPOX, FECH, PPOX genes by MLPA | 28 days | LV4185 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD,HMBS, PPOX genes by MLPA | 28 days | LV4186 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the UROS, UROD, CPOX, FECH genes by MLPA | 28 days | LV4188 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Detection of large deletions / duplications in the ENG and ACVRL1 genes by MLPA | 28 days | LV3212 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Detection of large deletions and/or duplications in GLA gene by MLPA | 28 days | LV1181 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Detection of large deletions and/or duplications in PMS2 gene by MLPA | 35 days | LV1183 | +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 |
| Peutz-Jeghers syndrome | Detection of large deletions and/or duplications in the STK11 gene by MLPA | 28 days | LV1574 | +Info |
| Cowden syndrome | Detection of large deletions and/or duplicationsin PTEN gene by MLPA | 28 days | LV1351 | +Info |
| MELAS syndrome | Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G in the MT-ND5 mitochondrial gene | 28 days | LV0438 | +Info |
| MELAS syndrome | Detection of mutations 3243A>G, 3271T>C and 3252A>G in the mitochondrial gene MT-TL1 | 28 days | LV0241 | +Info |
| MERRF syndrome | Detection of mutations 8344A>G, 8356T>C and 8363G>A in the mitochondrial gene MT-TK | 28 days | LV0242 | +Info |
| Hemochromatosis | Detection of mutations C282Y, H63D and S65C in the HFE gene | 28 days | LV0213 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Gilbert syndrome | Detection of the A(TA)7TAA allele in the UGT1A1 gene promotor | 28 days | LV0511 | +Info |
| Enfermedad Celiaca | Determination of risk haplotypes of HLA-DQA1 and HLA-DQB1 genes by MLPA (DQ2.2, DQ2.5, DQ7.5 and DQ8) | 28 days | LV4055 | +Info |
| Enfermedad Celiaca | Determination of the complete genotype of HLA-DQA1 and HLA-DQB1 genes by SSP | 42 days | LV4056 | +Info |
| Enfermedad Celiaca | Determination of the genotype HLA DQ2, DQ8 | 28 days | LV0195 | +Info |
| Enfermedad Celiaca | Determination of the Genotype HLA-DRB1 | 35 days | LV4158 | +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 |
| 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 |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Hepatitis C virus infection, response to therapy of | Genotyping of loci associated with responseto therapy | 42 days | LV1559 | +Info |
| Alcohol sensitivity | Genotyping of the ALDH2*2. ADH1B*47Hisand ADH1C*349Ile polymorphisms | Consult | LV0736 | +Info |
| Alpha1-antitrypsin deficiency | Genotyping of the PI*Z and PI*S alleles of theSERPINA1 gene | 28 days | LV0720 | +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 |
| 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 |
| Hearing loss secondary to kidney diseases | Next Generation Sequencing of 3 gene panel: BSND, GATA3, MYH9. | 42 days | LV1544 | +Info |
| Cutis laxa 1,2 AD, Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities. Cutis laxa, AR, type IB, IA, IIB, IIIB. | Next Generation Sequencing of 5 gene panel: EFEMP2, ELN, FBLN5, LTBP4, PYCR1 | 42 days | LV2180 | +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 |
| 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 |
| Gastrointestinal stromal tumor, familial (GIST) | NGS and bioinformatic CNVs screening, 7-gene panel: KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD | 42 days | LV4362 | +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 |
| Hypercholesterolemia, familial | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Alagille syndrome 2 | NGS and Sanger Sequencing of the NOTCH2 gene | 42 days | LV1979 | +Info |
| Hypercholanemia, familial | NGS and Sanger Sequencing of the TJP2 gene | 42 days | LV2057 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | NGS and Sanger Sequencing of the VIPAS39 gene | 42 days | LV2094 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | NGS and Sanger Sequencing of the VPS33B gene | 42 days | LV2096 | +Info |
| Cholestasis, intrahepatic and Alagille syndrome | NGS of 4 gene panel: ABCB11, ATP8B1, ABCB4, JAG1. | 42 days | LV2455 | +Info |
| Hypercholesterolemia, familial | NGS of 8 gene panel: ABCG5, ABCG8, APOB,APOE, CYP7A1, LDLR, LDLRAP1, PCSK9. | 42 days | LV3368 | +Info |
| Axenfeld-Rieger; Otopalatodigital; Velocardiofacial; Speech-language disorder-1; Orofacial cleft 7; Orofaciodigital syndrome; Branchiooculofacial, syndromes | NGS of 8 gene panel: FOXC1, PITX2, FLNA, TBX1, FOXP2, PVRL1, TCTN3, TFAP2A | 42 days | LV3010 | +Info |
| Hypercholesterolemia, familial | NGS of a 3-gene panel: APOB, LDLR and PCSK9 | 42 days | LV3931 | +Info |
| Cystic Fibrosis | NGS sequencing of the CFTR gene | 35 days | LV3427 | +Info |
| Ceroid lipofuscinosis | NGS of 10 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1. | 42 days | LV3515 | +Info |
| Congenital disorder of glycosylation, type II and Wrinkly skin syndrome | NGS of 10 gene panel: ATP6V0A2, B4GALT1, COG1, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35C1, TUSC3 | 42 days | LV3514 | +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 |
| Mucopolysaccharidosis types: Morquio, Scheie, Hurler, Hurler-Scheie, Maroteaux¦Lamy, Sly, Sanfilippo A, B, C, D, Hunter y IX. | NGS of 11 gene panel: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH. | 42 days | LV3498 | +Info |
| Lysosomal metabolic disorders: Aspartylglucosaminuria, Cystinosis, Galactosialidosis, Cerebral creatine deficiency, Sialuria, Malonyl-CoA decarboxylase deficiency, Mevalonic acid | NGS of 12 gene panel: AGA, CTNS, CTSA, GAMT, GATM, GNE, MLYCD, MVK, SLC17A5, SLC6A8, SUMF1, XDH | 42 days | LV3502 | +Info |
| Phospholipid disorders: PHARC, MNGIE TYPE, Sjogren-Larsson, Neurodegeneration with brain iron accumulation, Spastic paraplegia, GM3 synthase deficiency, HSAN1, Myoglobinur | NGS of 14 gene panel: ABHD12, ABHD5, AGK, CHKB, ELOVL4, FA2H, LPIN1, PANK2, PLA2G6, PNPLA6, ST3GAL5, SPTLC1, SPTLC2, TAZ | 42 days | LV3506 | +Info |
| Peroxisome biogenesis disorder, Adrenoleukodystrophy, Refsum disease neonatal e infantil, Rhizomelic chondrodysplasia punctata 1 | NGS of 15 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7. | 42 days | LV3508 | +Info |
| Congenital disorder of glycosylation, type I | NGS of 15 gene panel: ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1, SRD5A3. | 42 days | LV3513 | +Info |
| Sphingolipidosis: Gaucher, Metachromatic leukodystrophy, Krabbe, Niemann Pick, Fabry, Tay-Sachs, Sandhoff, Gangliosidosis, Farber, Wolman. | NGS of 17 gene panel: ARSA, ASAH1, GALC, GBA, GBA2, GBA3, GLA, GLB1, GM2A, HEXA, HEXB, LIPA, NAGA, NPC1, PSAP, SCARB2, SMPD1. | 42 days | LV3499 | +Info |
| Defects ?-oxidation of fatty acids: Refsum disease, Phytanoyl-CoA hydroxilase | NGS of 2 gene panel: PHYH, PEX7. | 42 days | LV3511 | +Info |
| Griscelli syndrome | NGS of 3 gene panel: MLPH, MYO5A, RAB27A | 42 days | LV3504 | +Info |
| Glycogen storage disease | NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4 | 42 days | LV3270 | +Info |
| Ichthyosis, neurological disorder, and skeletal dysplasia and Papillon Lefevre | NGS of 4 gene panel: ABHD5, ALDH3A2, CTSC, ELOVL4. | 42 days | LV3507 | +Info |
| Hyperoxaluria, Acatalasemia, Mulibrey syndrome, defective mitochondrial peroxisomal fission. | NGS of 5 gene panel: AGXT, CAT, DNM1L, SOD1, TRIM37, | 42 days | LV3512 | +Info |
| Glycoproteinosis, fucosidosis, Mannosidosis, Gklycogenosis type 2 | NGS of 5 gene panel: FUCA1, GAA, LAMP2, MAN2B1, MANBA | 42 days | LV3505 | +Info |
| Lysosomal bone disorders: Geleophysic dysplasia, Otospondylomegaepiphyseal dysplasia, Pycnodysostosis, Smith-McCort dysplasia, | NGS of 6 gene panel: ADAMTSL2, COL11A2, COL2A1, CTSK, DYM, RAB33B. | 42 days | LV3501 | +Info |
| Lysosomal syndromes: Chediak-Higashi, Smith Lemli Opitz, Simpson Golabi, Kabuki, Griscelli, Smith Magenis, Pitt Hopkins. | NGS of 12 gene panel: DHCR7, GPC3, KDM6A, KMT2D, LAMP1, LYST, MLPH, MYO5A, OFD1, RAB27A, RAI1, TCF4, | 42 days | LV3503 | +Info |
| Glycogen storage disease | NGS of 24 gene panel: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4. | 42 days | LV3397 | +Info |
| Rhizomelic chondrodysplasia punctata | NGS of 4 gene panel: AGPS, GNPAT, PEX5, PEX7. | 42 days | LV3509 | +Info |
| Mucolipidosis, Sialidosis. | NGS of 4 gene panel: GNPTAB, GNPTG, MCOLN1, NEU1 | 42 days | LV3500 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Seq.of the GLA gene & Detection of large deletions and/or duplications in the GLA gene by MLPA | 42 days | LV1495 | +Info |
| Cholestasis, Progressive Familial Intrahepatic Type 2 | Sanger Sequencing of the ABCB11 gene | 70 days | LV1118 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 2 | Sanger Sequencing of the ACVRL1 gene | 42 days | LV0824 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Sanger sequencing of the AGXT gene | 53 days | LV3674 | +Info |
| Fructose Intolerance | Sanger Sequencing of the ALDOB gene | 84 days | LV0943 | +Info |
| Adenomatous polyposis, familial | Sanger Sequencing of the APC gene | 42 days | LV0233 | +Info |
| Wilson disease | Sanger Sequencing of the ATP7B gene | 42 days | LV0262 | +Info |
| Cholestasis, Progressive Familial Intrahepatic Type 1 | Sanger Sequencing of the ATP8B1 gene | 70 days | LV1117 | +Info |
| Juvenile Polyposis Syndrome | Sanger sequencing of the BMPR1A gene | Consult | LV1326 | +Info |
| Biotinidase deficiency | Sanger sequencing of the BTD gene | 32 days | LV2672 | +Info |
| Gastric Cáncer, diffuse | Sanger Sequencing of the CDH1 gene | 56 days | LV0311 | +Info |
| Hypomagnesemia 3, renal | Sanger Sequencing of the CLDN16 gene | Consult | LV2459 | +Info |
| Coproporphyria, hereditary | Sanger Sequencing of the CPOX gene | Consult | LV1695 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Sanger sequencing of the ENG gene | 42 days | LV0813 | +Info |
| Autoimmune lymphoproliferative syndrome, type IA | Sanger sequencing of the FAS gene | 32 days | LV2888 | +Info |
| Birt-Hogg-Dube syndrome | Sanger Sequencing of the FLCN gene | 56 days | LV2566 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Galactosemia | Sanger sequencing of the GALT gene | 35 days | LV4118 | +Info |
| Glycogen storage disease type IV | Sanger Sequencing of the GBE1 gene | Consult | LV0926 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Sequencing of the GLA gene | 42 days | LV1180 | +Info |
| Juvenile Hemochromatosis type 2B | Sanger Sequencing of the HAMP gene | 42 days | LV1137 | +Info |
| Hemochromatosis | Sanger Sequencing of the HFE gene | 42 days | LV0214 | +Info |
| Juvenile Hemochromatosis type 2A | Sanger Sequencing of the HFE2 (HJV) gene | 42 days | LV1136 | +Info |
| Tyrosinemia, type III | Sanger Sequencing of the HPD gene | Consult | LV2962 | +Info |
| Lesch-Nyhan syndrome | Sanger Sequencing of the HPRT1 gene | 49 days | LV2299 | +Info |
| Mucopolysaccharidosis Type II | Sanger Sequencing of the IDS gene | Consult | LV1152 | +Info |
| Mucopolysaccharidosis I | Sanger Sequencing of the IDUA gene | 35 days | LV3108 | +Info |
| Isovaleric acidemia | Sanger sequencing of the IVD gene | 35 days | LV3822 | +Info |
| Alagille, type 1 syndrome | Sanger Sequencing of the JAG1 gene | 42 days | LV0236 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLR gene | 42 days | LV0219 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLRAP1 gene | Consult | LV2303 | +Info |
| Mediterranean Fever, familial | Sanger Sequencing of the MEFV gene | 42 days | LV0009 | +Info |
| Colorectal cancer, hereditary nonpolyposis, type 2 | Sanger Sequencing of the MLH1 gene | 42 days | LV0182 | +Info |
| Methylmalonic aciduria and homocystinuria, cblC type | Sanger Sequencing of the MMACHC gene | Consult | LV2967 | +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 |
| MELAS syndrome | Sanger Sequencing of the MT-ND5 mitochondrial gene | 35 days | LV0439 | +Info |
| Adenomatous polyposis 2, familial | Sanger sequencing of the MUTYH gene | 42 days | LV0787 | +Info |
| Diarrhea 4, malabsorptive, congenital | Sanger sequencing of the NEUROG3 gene | 84 days | LV3281 | +Info |
| Pseudohypoaldosteronism type I, autosomal dominant | Sanger Sequencing of the NR3C2 gene | 53 days | LV2968 | +Info |
| Ornithine transcarbamylase deficiency | Sanger Sequencing of the OTC gene | 42 days | LV2458 | +Info |
| Cowden syndrome | Sanger sequencing of the PIK3CA gene | 49 days | LV3284 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| Porphyria Variegata | Sanger Sequencing of the PPOX gene | 28 days | LV0333 | +Info |
| Hereditary pancreatitis | Sanger sequencing of the PRSS1 gene | 33 days | LV3668 | +Info |
| Cowden syndrome | Sanger sequencing of the PTEN gene | 42 days | LV0804 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Alpha1-antitrypsin deficiency | Sanger sequencing of the SERPINA1 gene | 32 days | LV0721 | +Info |
| Hemochromatosis, type 4 | Sanger sequencing of the SLC40A1 gene | 42 days | LV3528 | +Info |
| Juvenile Polyposis Syndrome | Sanger Sequencing of the SMAD4 gene | Consult | LV2629 | +Info |
| Diarrhea 3, secretory sodium, congenital, syndromic | Sanger sequencing of the SPINT2 gene | 35 days | LV4138 | +Info |
| Hyper-IgE, syndrome | Sanger sequencing of the STAT3 gene | 42 days | LV2661 | +Info |
| Peutz-Jeghers syndrome | Sanger Sequencing of the STK11 gene | 35 days | LV0150 | +Info |
| Hemochromatosis type 3 | Sanger Sequencing of the TFR2 gene | 56 days | LV1138 | +Info |
| TRAPS (Familial Hibernian Fever) | Sanger Sequencing of the TNFRSF1A gene | 42 days | LV0910 | +Info |
| Li Fraumeni Syndrome | Sanger sequencing of the TP53 gene | 35 days | LV0706 | +Info |
| Crigler-Najjar syndrome | Sanger Sequencing of the UGT1A1 gene | 42 days | LV0472 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +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 |
