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Comprehensive Primary Immunodeficiency NGS Panel
Panel Description
Overview:
Primary immunodeficiency is the term used to describe immune system disorders caused by genetic factors. Patients with these conditions are highly susceptible to illness and may experience recurring infections and susceptibility to autoimmunity, autoinflammatory diseases, and/or allergies. Individuals may also have a difficult time recovering from these conditions and require more intensive care than other patients.The discovery of new genes within the last 10 years has influenced our understanding of immunodeficiencies. The definition of “primary immunodeficiencies” as fundamental defects in the immune response has shifted toward the broader concept of “inborn errors of immunity” as a comprehensive group of different symptoms, including infection, autoinflammation, autoimmunity, allergy, and malignancy.
The Comprehensive Primary Immunodeficiency NGS Panel encompasses the most up-to-date developments in hereditary immunodeficiency and includes genes associated with antibody deficiencies, autoinflammatory disorders, combined immunodeficiencies, immune dysregulation disorders, malignancy, allergy, and other conditions that may present with similar phenotypes.
Who is this test for?
This panel may be appropriate for anyone who has a personal or family history of frequent infections, fevers, allergies, certain malignancies or rash, particularly if infections are recurrent and difficult to treat, require hospitalization or IV antibiotics, or are caused by an uncommon organism.What are the potential benefits for my patient?
This panel can help confirm a diagnosis and guide the course of treatment. Patients with immunodeficiency can take precautions to prevent infection. Diagnosis through genetic testing can help with the development of a management plan.- Establish or confirm the appropriate diagnosis
- Identify risks for additional related symptoms
- Assist in modifying lifestyle changes
- Result in more personalized treatment and symptom management
- Inform family members about their own risk factors
- Connect patients to relevant resources & support
- Provide options for family planning
Test Description
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Order Options:
Turnaround Time:
2 - 3 weeks
Cost:
Call for details
Genes:
ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADGRE2, ADIPOR1, ADIPOR2, AICDA, AIRE, AK2, ALG6, ALPI, ALPK1, ANGPT1, ANKZF1, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARMC4, ARPC1B, ASAH1, ATG4A, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CENPF, CFAP298, CFAP300, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, COG6, COL7A1, COLEC11, COPA, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYP27A1, DBR1, DCLRE1B, DCLRE1C, DDX58, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DTNBP1, EFL1, ELANE, EPG5, 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, FCGR3A, FCHO1, FCN3, FERMT3, FGA, FGB, FNIP1, FOXJ1, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GFI1, GINS1, GP1BA, GP1BB, GP9, GTF2H5, GUCY2C, HAVCR2, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HYDIN, HYOU1, ICOS, IFIH1, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL2, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7, IL7R, INO80, INSR, INVS, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, IVNS1ABP, JAGN1, JAK1, JAK2, JAK3, KDM6A, KIT, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LRRC6, LRRC8A, LSM11, LYST, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCIDAS, MCM10, MCM4, MEFV, MKL1, MLPH, MOGS, MPL, MPO, MRE11, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, OFD1, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIGA, PIH1D3, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLEKHM1, PLG, PLVAP, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PRF1, PRG4, PRKCD, PRKDC, PROC, PROS1, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAD50, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPL11, RPL15, RPL26, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27A, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SAR1B, SBDS, SEC61A1, SEMA3E, SERPING1, SGPL1, SH2D1A, SH3BP2, SH3KBP1, SI, SKIV2L, SLC10A2, SLC26A3, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC51B, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNORA31, SNX10, SOCS1, SP110, SPAG1, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK36, STK4, STN1, STX11, STX3, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TINF2, TIRAP, TLR2, TLR3, TLR7, TMC6, TMC8, TMEM173, TMPRSS15, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TONSL, TOP2B, TP63, TPP1, TPP2, TRADD, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC12, TTC25, TTC37, TTC7A, TYK2, UBA1, UBE2T, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, VSIG4, WAS, WDR1, WIPF1, WNT2B, WRAP53, XIAP, XK, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341, ZNFX1
( 592 genes )
Coverage:
96% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.
Gene Specifics:
| Gene | Notes |
|---|---|
| CD40LG | The current testing method does not assess trinucleotide repeat expansions in this gene. |
| F8 | The current testing method does not include detection of intron 1/intron 22 inversions in the F8 gene. This detection is available upon request. |
CPT Codes:
| CPT Code | 81407, 81408, 81479 |