Comprehensive Primary Immunodeficiency NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

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 Primary Immunodeficiency NGS Panel includes genes associated with antibody deficiencies, autoinflammatory disorders, combined immunodeficiencies, immune dysregulation disorders, and other conditions that may present with similar phenotypes.

This panel may be appropriate for anyone who has a personal or family history of frequent infections, fevers, or rash, particularly if infections are recurrent and difficult to treat, require hospitalization or IV antibiotics, or are caused by an uncommon organism.

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.

Genetic testing for primary immunodeficiency disorders can:
  • 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

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS13, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, AP3D1, APOL1, ARMC4, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4BPA, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CCBE1, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CEBPE, CENPF, CFAP298, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLEC7A, CLPB, COG6, COLEC11, COPA, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DDX58, DGKE, DHFR, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DTNBP1, ELANE, EPG5, 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, FCN3, FERMT3, FGA, FGB, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GAS8, GATA1, GATA2, GFI1, GINS1, GP1BA, GP1BB, GP9, GTF2H5, HAX1, HELLS, HPS1, HPS3, HPS4, HPS5, HPS6, HYDIN, HYOU1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL2, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, INO80, INSR, INVS, IRAK1, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, ISG15, ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK2, JAK3, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC6, LRRC8A, LYST, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCM4, MEFV, MKL1, MLPH, MOGS, MPL, MPO, MRE11, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OFD1, ORAI1, OSTM1, OTULIN, PALB2, PARN, PCCA, PCCB, PEPD, PGM3, PI4KA, PIGA, PIH1D3, PIK3CD, PIK3R1, PLCG2, PLEKHM1, PLG, PMM2, PMS2, PNP, POLA1, POLE, POLE2, PRF1, PRKCD, PRKDC, PROC, PROS1, PSENEN, PSMB8, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAD50, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, RELB, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, 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, SBDS, SEMA3E, SERPING1, SH2D1A, SH3BP2, SKIV2L, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SLC7A7, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STN1, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, THBD, TICAM1, TINF2, TIRAP, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF11, TNFSF12, TPP1, TPP2, TRADD, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XK, ZAP70, ZBTB24, ZMYND10, ZNF341 ( 471 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
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 Notes
CD40LG The current testing method does not assess trinucleotide repeat expansions in this gene.
RPGR This assay is capable of detecting most pathogenic variants in the critical "ORF15" region of the RPGR gene (NM_001034853.1). However, due to the complexity of this locus, currently available testing cannot completely rule out the presence of variants in a portion of this region: chrX(GRCh37):38144792-38146498.
CPT Code 81407, 81408, 81479

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

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Primary Immunodeficiency