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| Disease | Modality | Delivery | Reference | Data sheet |
|---|---|---|---|---|
| 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 |
| Angioedema, Inherited type I and II | Detection of deletions and/or duplications in SERPING1 by MLPA | 28 days | LV2947 | +Info |
| WHIM syndrome | Detection of deletions/duplications in the CXCR4 gene by MLPA | 28 days | LV4058 | +Info |
| Spondyloarthropathy, susceptibility to, 1 | Detection of HLA-B27 allele | 28 days | LV2297 | +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 |
| Telangiectasia ataxia | Detection of large deletions and/or duplications in the ATM gene by MLPA | 28 days | LV1463 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +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 |
| 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 |
| Histocompatibility | High resolution HLA-A, B, C, DRB1, DQB1typing. | 42 days | LV3817 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| X-linked agammaglobulinemia | Large deletions and duplications detection in theBTK gene by MLPA | 35 days | LV3492 | +Info |
| Hyper IgE Syndrome | Large deletions and duplications detection in theDOCK8 and STAT3 genes by MLPA | 35 days | LV3539 | +Info |
| Pseudoxanthoma Elasticum | NGS and Sanger sequencing of the ABCC6 gene | 42 days | LV3165 | +Info |
| Severe combined immunodeficiency, T cell-negative, B-cell/natural kill | NGS and Sanger Sequencing of the PTPRC gene | 42 days | LV2017 | +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 |
| Autoimmflamatory syndroms | NGS of 18 gene panel: CARD14,HOIL1,IL10,IL10RA,IL10RB,IL10RN,IL36RN,LPIN2,MEFV,MVK,NLRP12,NLRP3,NOD2,PLCG2,PSMB8,PSTPIP1,SH3BP2,TNFRSF1 | 42 days | LV3726 | +Info |
| Autoimmue diseases without lymphoproliferation | NGS of 2 gene panel: AIRE,ITCH | 42 days | LV3695 | +Info |
| Epidermodysplasia verruciformis | NGS of 2 gene panel: EVER1,EVER2 | 42 days | LV3707 | +Info |
| Defects of innate immunity. TIR signaling pathway deficiency. | NGS of 2 gene panel: IRAK4, MYD88 | 42 days | LV3706 | +Info |
| Anhidrotic ectodermal dysplasia with immunodeficiency | NGS of 2 gene panel: NEMO,IKBA | 42 days | LV3705 | +Info |
| Antibody deficience. Isotype or light chain deficiencies with generally normal numbers of B lymphocytes. | NGS of 2 gene panel: PRKDC,PIK3CD | 42 days | LV3691 | +Info |
| Phenocopies of primary immunodeficiency diseases associated with somatic mutations and with autoantibodies. | NGS of 2 gene panel: TNFRSF6,AIRE | 42 days | LV3713 | +Info |
| Wiskott-Aldrich Syndromes 1 and 2 | NGS of 2 gene panel: WAS,WIPF1 | 42 days | LV3682 | +Info |
| Genetic defects of regulatory T lymphocytes | NGS of 3 gene panel: FOXP3,IL2RA,STAT5B | 42 days | LV3694 | +Info |
| Immune dysregulation accompained with colitis | NGS of 3 gene panel: IL10,I10RA,IL10RB | 42 days | LV3697 | +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 |
| Complement system congenital defects. C1INH, CR2, CR3 deficiency | NGS of 3 gene panel: SERPING1,CD21,ITGB2 | 42 days | LV3712 | +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 |
| Autosomal dominant autoimmflamatory syndroms | NGS of 4 gene panel: CARD14,SH3BP2,PSMB8,PLCG2 | 42 days | LV3725 | +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 |
| T- B- syndromic combined immunodeficiency with dysregulation of antibody isotypes | NGS of 4 gene panel: IKAROS,POLE1,SPINK5,SP110 | 42 days | LV3722 | +Info |
| Defects of innate immunity. Chronic mucocutaneous candidiasis. | NGS of 4 gene panel: IL17RA,IL17F,STAT1,TRAF3IP2 | 42 days | LV3709 | +Info |
| Autosomal recessive autoimmflamatory syndroms | NGS of 4 gene panel: LPIN2,IL10RN,IL36RN,HOIL1 | 42 days | LV3724 | +Info |
| Autoimmflamatory diseases related to inflamosome disorders | NGS of 4 gene panel: MEFV,MVK,NLRP3,NLRP12 | 42 days | LV3710 | +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 |
| Chronic Granulomatous Disease | NGS of 5 gene panel: CYBB,CYBA,NCF1,NCF2,NCF4 | 42 days | LV3703 | +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 |
| Defects of innate immunity. Herpes Simplex virus encephalitis | NGS of 5 gene panel: TLR3,UNC93B1,TRAF3,TRIF,TBK1 | 42 days | LV3708 | +Info |
| T- B+ syndromic combined immunodeficiency | NGS of 5 gene panel: TTC7A,FOXN1,ORAI1,STIM1,STAT5B | 42 days | LV3721 | +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 |
| 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 |
| Autoimmflamatory diseases non-inlfamosome related. | NGS of 6 gene panel: TNFRSF1,IL10,IL10RA,IL10RB,PSTPIP1,NOD2 | 42 days | LV3711 | +Info |
| Innate immunity deficiencies associated with predisposition to infections | NGS of 7 gene panel: APOL1,RPSA,HOIL1,STAT2,MCM4,CARD9,CXCR4. | 42 days | LV3723 | +Info |
| Combined immunodeficiency with Dyskeratosis Congenital | NGS of 7 gene panel: DKC1,NOLA2,NOP10,RTEL1,TERC,TERT,TINF2 | 42 days | LV3686 | +Info |
| Familial Hemophagocytic Lymphohistiocytosis with or without hypopigmentation | NGS of 7 gene panel: PRF1,UNC13D,STX11,STXBP2,LYST,RAB27A,AP3B1 | 42 days | LV3692 | +Info |
| Autoimmune lymphoproliferative syndrome | NGS of 7 gene panel: TNFRSF6,TNFSF6,CASP10,CASP8,FADD,CARD11,PRKCD | 42 days | LV3696 | +Info |
| Interferonopathies | NGS of 7 gene panel: TREX1,RNASEH2B,RNASEH2C,RNASEH2A,SAMHD1,ADAR1,ACP5 | 42 days | LV3698 | +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 |
| Mendelian susceptibility to mycobacterial diseases | NGS of 9 gene panel: IL12RB1,IL12B,INFGR1,INFGR2,STAT1,CYBB,IRF8,GATA2,CSF2RA | 42 days | LV3704 | +Info |
| Omenn Syndrome | NGS of 9 gene panel: RAG1,RAG2,DCLRE1C,IL7RA,RMRP,ADA,LIG4,IL2RG,AK2 | 42 days | LV3681 | +Info |
| Shwachman-Diamond syndrome | Sanger sequencing of cDNA correspondingto mRNA from the SDBS gene. | 42 days | LV0344 | +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 |
| Autoimmune Polyendocrinopathy Syndrome Type 1 | Sanger Sequencing of the AIRE gene | 46 days | LV1289 | +Info |
| X-linked agammaglobulinemia | Sanger sequencing of the BTK gene | 56 days | LV3458 | +Info |
| Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Sanger sequencing of the ENG gene | 42 days | LV0813 | +Info |
| Angiodema, Hereditary, Type III | Sanger sequencing of the exon 9 of FXII gene. | 28 days | LV3449 | +Info |
| Autoimmune lymphoproliferative syndrome, type IA | Sanger sequencing of the FAS gene | 32 days | LV2888 | +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 |
| CINCA syndrome | Sanger Sequencing of the NLRP3 gene | 49 days | LV2313 | +Info |
| Angioedema, Inherited type I and II | Sanger Sequencing of the SERPING1 gene | 42 days | LV0834 | +Info |
| Myelodysplastic syndrome, somatic | Sanger sequencing of the SF3B1 gene | 84 days | LV3288 | +Info |
| Hyper-IgE, syndrome | Sanger sequencing of the STAT3 gene | 42 days | LV2661 | +Info |
| Familial Autoinflammatory syndrome Behcet-like | Sanger sequencing of the TNFAIP3 gene | 35 days | LV3898 | +Info |
| Familial Amyloidosis | Sanger Sequencing of the TTR gene | 32 days | LV1471 | +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 |
| 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 |