Activated PI3K Delta Syndrome

Disease/Condition(s): Activated PI3K Delta Syndrome (APDS)
What is Activated PI3K Delta Syndrome?

Activated PI3K Delta Syndrome (APDS) is a rare genetic immunodeficiency disorder characterized by mutations in the PIK3CD or PIK3R1 genes, which lead to the overactivation of the PI3K delta enzyme, a critical component of the immune system signaling pathway. This overactivation disrupts normal immune function, resulting in a range of clinical symptoms including recurrent respiratory infections, chronic herpesvirus infections, lymphoproliferation, and an increased risk of developing autoimmune disorders and lymphoma. Patients with APDS often experience significant immune dysfunction from early childhood.

Activated PI3K Delta Syndrome Sponsored Testing Program Overview:

Activated PI3K Delta Syndrome

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What is the role of testing for Activated PI3K Delta Syndrome?

Genetic testing is crucial for the diagnosis and management of Activated PI3K Delta Syndrome (APDS), as it enables precise identification of mutations in the PIK3CD or PIK3R1 genes, which are directly responsible for the disease. By confirming the genetic basis of the disorder, testing facilitates accurate diagnosis, distinguishing APDS from other immunodeficiency syndromes with similar symptoms. This specificity is essential for tailoring treatment strategies, including the potential use of targeted therapies that inhibit the PI3K delta pathway.

What is the Program?

The NavigateAPDS sponsored testing program is an initiative designed to facilitate the diagnosis and understanding of Activated PI3K Delta Syndrome (APDS) by providing no-cost genetic testing and counseling to individuals suspected of having this rare immunodeficiency disorder. This program aims to identify mutations in the PIK3CD and PIK3R1 genes, which are known to cause APDS, through comprehensive genetic screening. By offering access to genetic testing, NavigateAPDS helps healthcare providers confirm or rule out APDS, enabling appropriate and targeted treatment plans. The program also includes genetic counseling to help patients and their families understand the implications of the genetic results, contributing to better-informed decisions about care and management.

Program Eligibility

This program is available to patients in the US and Canada who meet any two or more of the following bulleted criteria below:

Clinical Features:

  • Bronchiectasis
  • Lymphadenopathy for greater than one month
  • Chronic hepatomegaly or chronic splenomegaly
  • Severe, persistent, or recurrent Herpesviridae infections (eg, EBV, cytomegalovirus)
  • Enteropathy
  • Lymphoma at 0-25 years – meets the 2 eligibility criteria
  • Lymphoma at ≥ 26 years of age – requires second eligibility criteria


Laboratory:

  • Elevated levels of immunoglobulin M
  • Increased number of follicular helper T cells
  • Reduced number of naïve B cells


History:

  • Common Variable Immune Deficiency (CVID) phenotype or direct family member with CVID phenotype
  • Relative with PIK3CD or PIK3R1 genotype (first or second degree) – meets the 2 eligibility criteria

Testing

How to participate

Choose between the following testing options:

Prevention Genetics

PGmax™ – Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel

Genes Evaluated: ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADIPOQ, ADIPOR1, ADIPOR2, AICDA, AIRE, AK2, ALG6, ALPI, ANGPT1, ANKZF1, AP1S3, AP3B1, AP3D1, APOA1, APOA2, APOL1, ARHGEF1, ARPC1B, ASAH1, ATM, ATP6AP1, ATR, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRIP1, BTK, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CD93, CDC42, CDCA7, CDK9, CEBPE, CENPF, CFAP298, CFAP300, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CLU, COG6, COL7A1, COLEC11, COPA, CORO1A, CR2, CREBBP, CRP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYP27A1, DBR1, DCLRE1B, DCLRE1C, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EBF1, EFL1, EIF2AK3, ELANE, EPG5, EPO, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F11, F13A1, F13B, F5, F7, F8, F9, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCHO1, FCN1, FCN2, FCN3, FERMT1, FERMT3, FGA, FGB, FOXI3, FOXJ1, FOXN1, FOXP3, FPR1, G6PC1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GFI1, GINS1, GP1BA, GP1BB, GP9, GTF2E2, GTF2H5, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL2, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, INSR, INVS, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, IVNS1ABP, JAGN1, JAK1, JAK2, JAK3, KCNN4, KDM6A, KIT, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MAT2A, MBL2, MC2R, MCIDAS, MCM4, MEFV, MLPH, MOGS, MPL, MPLKIP, MPO, MRE11, MRTFA, MS4A1, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYO5B, MYSM1, NBAS, NBN, NCF2, NCF4, NCSTN, NEUROG3, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PRF1, PRG4, PRKCD, PRKDC, PROC, PROS1, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTEN, PTPRC, PTX3, RAB27A, RAC2, RAD50, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIGI, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SAR1B, SBDS, SCO2, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SI, SIAE, SKIC2, SKIC3, SLC10A2, SLC26A3, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STX3, STXBP2, TAFAZZIN, TAOK2, TAP1, TAP2, TAPBP, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, THPO, TICAM1, TIMM50, TINF2, TIRAP, TLR3, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TP63, TPP1, TPP2, TRAC, TRADD, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC12, TTC7A, TYK2, UBE2T, UNC119, UNC13D, UNC45A, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, VSIG4, VTN, WAS, WDR1, WIPF1, WRAP53, XIAP, XK, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341, ZNFX1

How To Order

Collect a specimen in the collection tube. For information about ordering specimen kits, see Specimen Collection and Shipping section

Order Here
Learn More

Prevention Genetics

PGmax™ – Primary Immunodeficiency and Malignancy Predisposition Panel

Genes Evaluated: ABCB7, ABCG5, ABCG8, ACD, ACP5, ACTB, ACTN1, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADIPOQ, ADIPOR1, ADIPOR2, AICDA, AIRE, AK2, ALAS2, ALG6, ALPI, ANGPT1, ANKRD26, ANKZF1, AP1S3, AP3B1, AP3D1, APOA1, APOA2, APOL1, ARHGEF1, ARPC1B, ASAH1, ATM, ATP6AP1, ATR, ATRX, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CD93, CDAN1, CDC42, CDCA7, CDIN1, CDK9, CDKN2A, CEBPA, CEBPE, CENPF, CFAP298, CFAP300, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CHEK2, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CLU, COG6, COL7A1, COLEC11, COPA, CORO1A, CR2, CREBBP, CRP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYCS, CYP27A1, DBR1, DCLRE1B, DCLRE1C, DDX11, DDX41, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3A, DNMT3B, DOCK11, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EBF1, EFL1, EIF2AK3, ELANE, EPCAM, EPG5, EPO, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F11, F13A1, F13B, F5, F7, F8, F9, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCHO1, FCN1, FCN2, FCN3, FERMT1, FERMT3, FGA, FGB, FLI1, FOXI3, FOXJ1, FOXN1, FOXP3, FPR1, FYB1, G6PC1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GFI1, GFI1B, GINS1, GLRX5, GP1BA, GP1BB, GP9, GTF2E2, GTF2H5, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HLTF, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HSPA9, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL2, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, INSR, INVS, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGA2, ITGA2B, ITGAM, ITGB2, ITGB3, ITK, IVNS1ABP, JAGN1, JAK1, JAK2, JAK3, KCNN4, KDM1A, KDM6A, KIF23, KIT, KLF1, KLHDC8B, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MASTL, MAT2A, MBD4, MBL2, MC2R, MCIDAS, MCM4, MECOM, MEFV, MLH1, MLPH, MOGS, MPIG6B, MPL, MPLKIP, MPO, MRE11, MRTFA, MS4A1, MSH2, MSH6, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYO5B, MYSM1, NAF1, NBAS, NBEAL2, NBN, NCF2, NCF4, NCSTN, NEUROG3, NF1, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NPAT, NPM1, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PAX5, PCCA, PCCB, PEPD, PGM3, PI4KA, PIEZO1, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, POT1, PRF1, PRG4, PRKACG, PRKCD, PRKDC, PROC, PROS1, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTEN, PTPN11, PTPRC, PTPRU, PTX3, PUS1, RAB27A, RAC2, RAD23B, RAD50, RAD51, RAD51C, RAD51D, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIGI, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL36, RPL5, RPS10, RPS14, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD14, SAMD9, SAMD9L, SAMHD1, SAR1B, SBDS, SBF2, SCO2, SEC23B, SEC61A1, SEMA3E, SEPTIN6, SERPING1, SETBP1, SH2B3, SH2D1A, SH3BP2, SH3KBP1, SI, SIAE, SKIC2, SKIC3, SLC10A2, SLC19A2, SLC25A38, SLC26A3, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STX3, STXBP2, TAFAZZIN, TAOK2, TAP1, TAP2, TAPBP, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERF2IP, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, THPO, TICAM1, TIMM50, TINF2, TIRAP, TLR3, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TP53, TP63, TPP1, TPP2, TRAC, TRADD, TRAF3, TRAF3IP2, TREX1, TRNT1, TSR2, TTC12, TTC7A, TUBB1, TYK2, UBA1, UBE2T, UNC119, UNC13D, UNC45A, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, VSIG4, VTN, WAS, WDR1, WIPF1, WRAP53, XIAP, XK, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341, ZNFX1

How To Order

Collect a specimen in the collection tube. For information about ordering specimen kits, see Specimen Collection and Shipping section

Order Here
Learn More

More Information About This Program

  • Patients that meet the eligibility criteria may receive one test at no cost.
  • No patients, providers, and/or third-party payers (including commercial health plans and government health care programs) will be billed for the testing covered under the program.
  • The ordering physician will not receive any fees or other compensation in connection with the Sponsored Testing Program, such as for specimen collection, handling, or data reporting.
  • Patients meeting the above eligibility criteria, as well as their treating health care providers, are not required to order, purchase, prescribe, and/or obtain any other product or service from sponsor, the labs or any of their affiliates.
  • The performing labs reserve the right to rescind, revoke, or amend the program for any reason without notice.
  • Program is not valid where prohibited by law.
  • No identifiable patient data will be shared with sponsor as part of this program.

About Pharming Group N.V.

Pharming Group NV logo

Pharming Group N.V. (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating, and life-threatening diseases. Pharming is commercializing and developing an innovative portfolio of protein replacement therapies and precision medicines, including small molecules, biologics, and gene therapies that are in early to late-stage development. Pharming is headquartered in Leiden, the Netherlands, and has employees around the globe who serve patients in over 30 markets in North America, Europe, the Middle East, Africa, and Asia-Pacific. For more information, visit www.pharming.com and find us on LinkedIn.

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