Genetic Diagnosis of Primary Immunodeficiencies

What are primary immunodeficiencies?

Primary immunodeficiencies (PIDs) are a group of inborn errors of immunity associated with impaired immune system function. They are caused by genetic alterations that impair the development and activity of immune cells.

Primary immunodeficiencies can manifest as frequent, severe infections, autoimmune complications, inflammatory diseases, allergic manifestations, and damage to the lungs, intestines, skin, and other organs. In some cases, the disease remains unrecognized for a long time due to the diversity of its clinical presentations.

At the Center for Pediatric Oncology, Hematology and Immunology, genetic diagnostics of primary immunodeficiencies are performed using next-generation sequencing (NGS) with a targeted panel comprising 452 PID-associated genes (PID Pro Panel, 4bases, Switzerland).

List of analyzed genes 

ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AK7, ALG6, ANGPT1, ANKZF1, AP3B1, AP3D1, ARHGEF1, ARMC4, ARPC1B, ASAH1, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BTK, C11orf70, C17orf62, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CBL, CCBE1, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CEP164, CFAP298, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLPB, COL7A1, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYP27A1, DCLRE1C, DDX58, DEF6, DGAT1, DIAPH1, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EFL1, EIF2AK3, ELANE, EPG5, ERBIN, ERCC2, ERCC3, ERCC6L2, EXTL3, FADD, FANCA, FANCB, FANCE, FANCF, FANCI, FANCL, FAS, FASLG, FAT4, FCHO1, FERMT1, FERMT3, FOXI3, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GAS8, GATA2, GFI1, GINS1, GTF2E2, GTF2H5, GUCY2C, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, IRAK4, IRF2BP2, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, LAMTOR2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC6, LRRC8A, LYN, LYST, MAGT1, MALT1, MAP3K14, MCIDAS, MCM4, MEFV, MKL1, MOGS, MPLKIP, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBAS, NBN, NCF2, NCF4, NCSTN, NEUROG3, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NOTCH2, NSMCE3, OAS1, OFD1, ORAI1, OSTM1, OTULIN, PARN, PAX1, PEPD, PGM3, PIH1D3, PIK3CD, PIK3R1, PLCG2, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SAR1B, SCO2, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SI, SIAE, SKIV2L, SLC26A3, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STN1, STX11, STX3, STXBP2, TAOK2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TIMM50, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TP63, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC45A, UNC93B1, UNG, USB1, VAV1, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341 

To perform the genetic test, we use the patient’s peripheral blood. In the laboratory performes DNA extraction and preparation of the genetic material for analysis, as well as targeted gene panel sequencing. The obtained data undergo bioinformatic processing using specialized analytical algorithms. The identified genetic variants are subsequently interpreted taking into account the patient’s clinical picture, immunological parameters, and current international guidelines.

Cost of the procedure: 3328.96 Belarusian rubles

Phone numbers for appointments and detailed information: +375 (17) 287-10-80, +375 (29) 373-83-20 (Fee-Based Services Department)

Working hours (Mon–Fri): 08:00 – 15:40

Turnaround time for the study and result interpretation: the analysis and interpretation of the obtained results may take approximately 60 business days. The report with the study results will be sent to the customer’s email address.