| Molecular Oncohematology | ABL 5' Mutations | 35 days | LV0633 | +Info |
| Hemophilia A (Factor VIII) | Analysis for Intron 1 Inversion in F8 gene | 42 days | LV1383 | +Info |
| Hemophilia A (Factor VIII) | Analysis for Intron 22 Inversionin F8 gene | 42 days | LV1382 | +Info |
| Molecular Oncohematology | BCR-ABL mRNA quantification | 21 days | LV0586 | +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 |
| Wilson disease | Detection of deletions and/or duplications in ATP7B gene by MLPA. | 28 days | LV2927 | +Info |
| Multiple Cavernomatosis | Detection of deletions and/or duplications inKRIT1, CCM2 y PDCD10 genes by MLPA | 35 days | LV2552 | +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 |
| WHIM syndrome | Detection of deletions/duplications in the CXCR4 gene by MLPA | 28 days | LV4058 | +Info |
| Beta Thalassaemia | Detection of deletions/duplications in the HBB gen by MLPA | 28 days | LV4171 | +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 |
| Pseudoxanthoma Elasticum | Detection of large deletions and/or duplications ABCC6 gene by MLPA | 28 days | LV1146 | +Info |
| Hemophilia A (Factor VIII) | Detection of large deletions and/or duplications in F8 gene by MLPA | 42 days | LV1384 | +Info |
| Telangiectasia ataxia | Detection of large deletions and/or duplications in the ATM gene by MLPA | 28 days | LV1463 | +Info |
| GLUT1 deficiency syndrome 2 or Dystonia 18. | Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA | 28 days | LV3244 | +Info |
| GLUT1 deficiency syndrome type I. | Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA | 28 days | LV3244 | +Info |
| Fanconi Anemia | Detection of large deletions and/orduplications in the FANCA gene by MLPA | 35 days | LV1586 | +Info |
| Factor XII, Deficiency of | Detection of mutation c.46C>T of the F12 gene | 28 days | LV1294 | +Info |
| Chronic lymphocytic leukemia | Detection of mutation p.P2515fs*4 in the NOTCH1 gene by ASO-PCR | 14 days | LV4341 | +Info |
| Factor V (Leiden) deficiency | Detection of mutation R506Q in the F5 (Factor V) gene | 28 days | LV0190 | +Info |
| Hemochromatosis | Detection of mutations C282Y, H63D and S65C in the HFE gene | 28 days | LV0213 | +Info |
| MTHFR deficiency | Detection of polymorphism A222Vin the MTHFR gene | 28 days | LV0052 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Hyperprothrombinemia | Detection of the 20210GaA mutation in the F2gene | 28 days | LV0218 | +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 |
| Polycythemia Vera | Exon 12 Sanger secuencing of the JAK2 gene | 28 days | LV3669 | +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 |
| Molecular Oncohematology | FLT3 Mutations | 21 days | LV0630 | +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 |
| Molecular Oncohematology | gene by ddPCRQuantification of the V617F mutation in the JAK2 | 15 days | LV0634 | +Info |
| Telangiectasia ataxia | geneNGS and Sanger sequencing of theATM | 42 days | LV1015 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Cardiovascular Risk | Genetic-clinical evaluation of cardiovascular risk | 35 days | LV4100 | +Info |
| Plasminogen activator inhibitor-1 deficiency | Genotyping of the 4G/5G polymorphism in the 5'UTR region of the SERPINE1 gene | 28 days | LV0531 | +Info |
| Genetic Linkage Analysis | Haplotypes analysis (includes three familymembers and four genetic markers) | Consult | LV0036 | +Info |
| Alpha Thalassemia (Deletion type) | HBA1 and HBA2 genes by MLPADetection of deletions and duplications in the | 28 days | LV0810 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| Molecular Oncohematology | Molecular detection AML1/ETO rearrangement | 21 days | LV0639 | +Info |
| Molecular Oncohematology | Molecular detection Bcl-2rearrangement, MBR region | 28 days | LV0916 | +Info |
| Molecular Oncohematology | Molecular detection CBFB/MYH11 rearrangement | 21 days | LV0629 | +Info |
| Molecular Oncohematology | Molecular detection IGH rearrangement | 21 days | LV0625 | +Info |
| Molecular Oncohematology | Molecular detection PML/RARA rearrangement | 21 days | LV0628 | +Info |
| Molecular Oncohematology | Molecular detection TCR rearrangement(Beta y Gamma) | 21 days | LV0626 | +Info |
| Epstein syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Fechtner syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Macrothrombocytopenia and progressive sensorineural deafness | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| May-Hegglin anomaly | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Sebastian syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Abnormal mineralization group: Nephrolithiasis / osteoporosis, hypophosphatemic, 1, 2 , Fanconi renotubular syndrome 2, Chondrocalcinosis 2 AD, Metaphyseal dysplasia, Jansen and Eiken types | Next Generation Sequencing of 5 gene panel: ANKH, AMER1, PTH1R, SLC34A1, SLC9A3R1. | 42 days | LV2229 | +Info |
| Pseudoxanthoma Elasticum | NGS and Sanger sequencing of the ABCC6 gene | 42 days | LV3165 | +Info |
| Leukaemia | NGS of a 36 gene panel and 24 structural alterations associated with Acute Myeloid Leukemia. Complete genes: ANKRD26, DDX41, EPOR, ETV6, EZH2, NF1, TET2, ZRSR2. Partial genes: ABL1, ASXL1, CALR, CBL, CEBPa, CSF3R, DNMT3A, ETNK1, FLT3, GATA2, IDH1, IDH2, IKZF1, JAK2, KIT, KMT2A, KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TP53, VHL, WT1. Structural: 14 specific translocations and large deletions on chromosomes 4, 5, 7, 11, 12, 17 and 20, aneusomies on chromosomes 8 and 19 and inversions on chromosome 17. | 35 days | LV4208 | +Info |
| Leukaemia | NGS of a 62 gene panel associated with Acute Myeloid Leukemia. Complete genes: AKAP13, BCOR, BCORL1, BRAF, CA9, CEBPA,TET2, CNOT3, CREBBP, CUX1, DNAH9, DNMT3A, ELF4, EZH2, FMN2, GNAS, GNB1, HTT, LTA4H, MAP1B, MAP2K1, MAZ, MYD88, NF1, NOTCH1, PHF6, POU2F2, POU4F1, PPM1D, RAF1, RIT1, SETBP1, SETD2, SETDB1, SHOC2, SMC3, SOS1, STAG1, STAG2, TLR9, TP53, ZRSR2. Partial genes: ASXL1, CALR, CBL, CSF3R, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, KMT2A, MPL, NPM1, NRAS, PTPN11, RUNX1, SF3B1, SRSF2, U2AF1, WT1 | 35 days | LV4207 | +Info |
| Leukaemia | NGS of a 62-gene panel for Acute Myeloid Leukemia (point variants) | 35 days | LV3882 | +Info |
| Leukaemia | NGS of amplicons in 36 genes for point variants and 27 structural alterations associated with AML | 35 days | LV3883 | +Info |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) | NGS of NOTCH3 gene | 28 days | LV3973 | +Info |
| Combined immunodeficiency with impaired lymphoproliferation | NGS of 10 gene panel: RMRP,DOCK8,RHOH,STK4,TRAC,LCK,MALT1,IL21R,CARD11,MAGT1 | 42 days | LV3717 | +Info |
| Antibody deficience. Severe reduction in at least two serum isotypes with normal or low number of B lymphocytes. | NGS of 11 gene panel: ICOS,CD19,CD81,CD20,CD21,TNFRSF13B,LRBA,TNFRSF13C,TNFSF12,NFKB2,CXCR4 | 42 days | LV3689 | +Info |
| Combined immunodeficiency with abnormal B and T cells subpopulations | NGS of 11 gene panel: UNC119,PIK3CD,DOCK8,STK4,TNFRSF4,LRBA,SH2D1A,CD40,CD40LG,CD27,IKBKB | 42 days | LV3715 | +Info |
| Combined immunodeficiency with anomalous antibody levels | NGS of 13 gene panel: PIK3CD,CD40,PNP,ITK,RMRP,DOCK8,STK4,LCK,CARD11,IKBKB,LRBA,CD27,CD40LG, | 42 days | LV3719 | +Info |
| Wiskott-Aldrich Syndromes 1 and 2 | NGS of 2 gene panel: WAS,WIPF1 | 42 days | LV3682 | +Info |
| Leukocyte adhesion deficiency types 1-3 | NGS of 3 gene panel: ITGB2,FUCT1,KINDLIN3 | 42 days | LV3701 | +Info |
| Combined immunodeficiency with anomalous antibody-mediated effector function | NGS of 3 gene panel: MALT1,IL21R,SH2D1A | 42 days | LV3720 | +Info |
| Combined immunodeficiency with thymic defects | NGS of 3 gene panel: TBX1,CHD7,SEMA3E | 42 days | LV3684 | +Info |
| Combined immunodeficiency with defects of vitamin B12 and folate metabolism | NGS of 3 gene panel: TCN2,SLC46A1,MTHFD1 | 42 days | LV3687 | +Info |
| Antibody deficience. Severe reduction in serum IgG and IgA with normal or elevated IgM and normal numbers of B lymphocytes. | NGS of 4 gene panel: CD40LG,CD40,AICDA,UNG | 42 days | LV3690 | +Info |
| Glycogen storage disease | NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4 | 42 days | LV3270 | +Info |
| T- B- syndromic combined immunodeficiency with dysregulation of antibody isotypes | NGS of 4 gene panel: IKAROS,POLE1,SPINK5,SP110 | 42 days | LV3722 | +Info |
| Lymphoproliferative syndromes | NGS of 4 gene panel: SH2D1A,XIAP,ITK,CD27 | 42 days | LV3693 | +Info |
| Combined immunodeficiency with decreased or absent T CD8 lymphocytes | NGS of 5 gene panel: CD8A,ZAP70,TAP1,TAP2,TAPBP | 42 days | LV3714 | +Info |
| Defects of neutrophil function | NGS of 5 gene panel: LAMTOR2,TAZ,VPS13B,USB1,SLC37A4 | 42 days | LV3700 | +Info |
| Combined immunodeficiency with reduced memory B cell subpopulation | NGS of 5 gene panel: PIK3CD,DOCK8,TNFRSF4,CD27,SH2D1A | 42 days | LV3718 | +Info |
| Combined immunodeficiency with immune-osseous dysplasias | NGS of 5 gene panel: RMRP,SMARCAL1,STAT3,TYK2,DOCK8 | 42 days | LV3685 | +Info |
| T- B+ syndromic combined immunodeficiency | NGS of 5 gene panel: TTC7A,FOXN1,ORAI1,STIM1,STAT5B | 42 days | LV3721 | +Info |
| Anemia, sideroblastic and Protoporphyria, erythropoietic | NGS of 6 gene panel: ABCB7, ALAS2, FECH, FTMT, PUS1, YARS2 | 42 days | LV3273 | +Info |
| Severe congenital neutropenia types 1-5 and X-linked neutropenia | NGS of 6 gene panel: ELANE,GFI1,HAX1,G6PC3,VPS45,WAS | 42 days | LV3699 | +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 |
| Phagocytes motility defects | NGS of 6 gene panel: RAC2,ACTB,FPR1,CTSC,CEBPE,SBDS | 42 days | LV3702 | +Info |
| T- B- Severe combined immunodeficiency | NGS of 6 gene panel: RAG1,RAG2,DCLRE1C,PRKDC,AK2,ADA | 42 days | LV3680 | +Info |
| Combined immunodeficiency with Dyskeratosis Congenital | NGS of 7 gene panel: DKC1,NOLA2,NOP10,RTEL1,TERC,TERT,TINF2 | 42 days | LV3686 | +Info |
| Autoimmune lymphoproliferative syndrome | NGS of 7 gene panel: TNFRSF6,TNFSF6,CASP10,CASP8,FADD,CARD11,PRKCD | 42 days | LV3696 | +Info |
| Antibody deficience. Severe reduction of all serum isotypes with profundly decreased or absent B lymphocytes. | NGS of 8 gene panel: BTK,IGHM,IGLL1,CD79A,CD79B,BLNK,PIK3R1,TCF3 | 42 days | LV3688 | +Info |
| T- B+ Severe combined immunodeficiency | NGS of 8 gene panel: IL2RG,JAK3,L7RA,PTPRC,CD3D,CD3E,CD3Z,CORO1A | 42 days | LV3679 | +Info |
| Combined immunodeficiency with abnormal T cell subpopulations | NGS of 8 gene panel: PNP,CD3G,ITK,RHOH,TRAC,LCK,CARD11,MAGT1 | 42 days | LV3716 | +Info |
| Combined immunodeficiency with DNA repair defects | NGS of 9 gene panel: ATM,MRE11,NBS1,RECQL3,DNMT3B,ZBTB24,PMS2,RNF168,MCM4 | 42 days | LV3683 | +Info |
| Omenn Syndrome | NGS of 9 gene panel: RAG1,RAG2,DCLRE1C,IL7RA,RMRP,ADA,LIG4,IL2RG,AK2 | 42 days | LV3681 | +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 |
| Molecular Oncohematology | NPM1 Mutations | 35 days | LV0631 | +Info |
| Shwachman-Diamond syndrome | Sanger sequencing of cDNA correspondingto mRNA from the SDBS gene. | 42 days | LV0344 | +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 |
| Alpha Thalassemia (Deletion type) | Sanger sequencing of HBA1 and HBA2 genes | 56 days | LV3889 | +Info |
| Heinz body anemias | Sanger sequencing of HBA1 and HBA2 genes | 56 days | LV3889 | +Info |
| X-Linked Severe Combined Immunodeficiency | Sanger sequencing of IL2RG gene | Consult | LV0806 | +Info |
| Spondyloenchondrodysplasia with immune dysregulation | Sanger Sequencing of the ACP5 gene | Consult | LV2969 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 2 | Sanger Sequencing of the ACVRL1 gene | 42 days | LV0824 | +Info |
| Anemia, sideroblastic, 1 | Sanger sequencing of the ALAS2 gene | 32 days | LV3541 | +Info |
| Protoporphyria, erythropoietic, X-linked | Sanger sequencing of the ALAS2 gene | 32 days | LV3541 | +Info |
| Wilson disease | Sanger Sequencing of the ATP7B gene | 42 days | LV0262 | +Info |
| Hemolytic-Uremic Syndrome | Sanger sequencing of the C3 gene | 42 days | LV3243 | +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 |
| Multiple Cavernomatosis | Sanger Sequencing of the CCM2 gene | 42 days | LV1258 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CD46 gene | Consult | LV0947 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFB gene | Consult | LV0949 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFH gene | 56 days | LV0946 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFI gene | Consult | LV0948 | +Info |
| Coproporphyria, hereditary | Sanger Sequencing of the CPOX gene | Consult | LV1695 | +Info |
| Methemoglobinemia, type I, II | Sanger sequencing of the CYB5R3 gene | Consult | LV2887 | +Info |
| Neutropenia, severe congenital , autosomal dominant type 1 | Sanger Sequencing of the ELANE gene | 42 days | LV0337 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Sanger sequencing of the ENG gene | 42 days | LV0813 | +Info |
| Factor XII, Deficiency of | Sanger sequencing of the exon 9 of FXII gene. | 28 days | LV3449 | +Info |
| Hemophilia A (Factor VIII) | Sanger Sequencing of the F8 gene (Factor VIII) | 42 days | LV0216 | +Info |
| Hemophilia B | Sanger Sequencing of the F9 gene | 42 days | LV0217 | +Info |
| Fanconi Anemia | Sanger Sequencing of the FANCA gene | 42 days | LV1847 | +Info |
| Hemolytic anemia due to G6PD deficiency | Sanger Sequencing of the G6PD gene | 53 days | LV2424 | +Info |
| Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | Sanger Sequencing of the GATA1 gene | Consult | LV2333 | +Info |
| Thrombocytopenia with beta-thalassemia, X-linked | Sanger Sequencing of the GATA1 gene | Consult | LV2333 | +Info |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | Sanger Sequencing of the GATA1 gene | Consult | LV2333 | +Info |
| Bernard-Soulier syndrome, type B | Sanger sequencing of the GP1BB | 42 days | LV4016 | +Info |
| Juvenile Hemochromatosis type 2B | Sanger Sequencing of the HAMP gene | 42 days | LV1137 | +Info |
| Beta Thalassaemia | Sanger Sequencing of the HBB gene | 28 days | LV0443 | +Info |
| Thalassemia, delta- | Sanger sequencing of the HBD gene | 28 days | LV4106 | +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 |
| Multiple Cavernomatosis | Sanger sequencing of the KRIT1 gene | 42 days | LV0759 | +Info |
| Medullary cystic kidney disease 1 | Sanger sequencing of the MUC1 gene | 28 days | LV3219 | +Info |
| CINCA syndrome | Sanger Sequencing of the NLRP3 gene | 49 days | LV2313 | +Info |
| Cerebral cavernous malformations | Sanger Sequencing of the PDCD10 gene | 42 days | LV2515 | +Info |
| Multiple Cavernomatosis | Sanger Sequencing of the PDCD10 gene | 42 days | LV2515 | +Info |
| Adenosine triphosphate, elevated, of erythrocytes | Sanger sequencing of the PKLR gene | 56 days | LV3467 | +Info |
| Pyruvate kinase deficiency | Sanger sequencing of the PKLR gene | 56 days | LV3467 | +Info |
| Plasminogen Deficiency type 1 | Sanger Sequencing of the PLG gene | Consult | LV0783 | +Info |
| Porphyria Variegata | Sanger Sequencing of the PPOX gene | 28 days | LV0333 | +Info |
| Thrombophilia | Sanger sequencing of the PROCR gene | 56 days | LV3899 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Antithrombin III deficiency | Sanger sequencing of the SERPINC1 gene | 35 days | LV0726 | +Info |
| Myelodysplastic syndrome, somatic | Sanger sequencing of the SF3B1 gene | 84 days | LV3288 | +Info |
| GLUT1 deficiency syndrome 2 or Dystonia 18. | Sanger Sequencing of the SLC2A1 gene. | 42 days | LV2939 | +Info |
| GLUT1 deficiency syndrome type I. | Sanger Sequencing of the SLC2A1 gene. | 42 days | LV2939 | +Info |
| Hemochromatosis, type 4 | Sanger sequencing of the SLC40A1 gene | 42 days | LV3528 | +Info |
| Myelodysplastic syndrome, somatic | Sanger sequencing of the TET2 gene | 46 days | LV3566 | +Info |
| Hemochromatosis type 3 | Sanger Sequencing of the TFR2 gene | 56 days | LV1138 | +Info |
| Iron-refractory iron deficiency anemia | Sanger sequencing of the TMPRSS6 gene | 53 days | LV3670 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +Info |
| Neutropenia, severe congenital, X-linked | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Thrombocytopenia, X-linked, intermittent | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Thrombocytopenia, X-linked | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WAS gene | 56 days | LV3462 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WASF1 gene | 56 days | LV3463 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WASF2 gene | 56 days | LV3464 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WASL gene | 56 days | LV3465 | +Info |
| Wiskott-Aldrich syndrome | Sanger sequencing of the WIPF1 gene | 56 days | LV3466 | +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 |
| Thrombophilia | Simultaneous analysis of FII, FV and MTHFR | 28 days | LV0232 | +Info |
| Thrombophilia | Simultaneous analysis of FII, FV, MTHFR and SERPIN | 28 days | LV0578 | +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 |
| Study of RhD Zygosity | Zygosity determination of RhD | 28 days | LV0763 | +Info |
