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 |