ImmunoPlex™ - Immune Deficiency Gene Panel

Questions: 1-800-713-5198

Background


ImmunoPlex™ is useful for the evaluation of patients with immune deficiency that may include T and B cell dysfunction. This includes individuals with severe combined immune deficiency (SCID), combined immune deficiency (CID), congenital agammaglobulinemia, familial hemphagocytic lymphohistiocytosis (FHLH), lymphocytic immunodeficiencies, and low immunoglobulins susceptible to opportunistic infections and/or severe infections. The panel uses next-generation sequencing to detect most mutations in the genes listed below. The assay completely sequences all exons of these genes AND detects large deletions, duplications and mosaicism. ImmunoPlex™ subpanels are available for Severe Combined Immune Deficiency (SCID), Congenital Agammaglobulinemia, and Familial Hemophagocytic Lymphohistiocytosis (FHLH).

Methods


This assay sequences all exons of multiple genes associated with inherited immune deficiency syndromes. The average coverage ranges from 320 to >1,000 sequencing reads per bp. Genomic regions are captured using biotinylated RNA oliognucleotides (SureSelect), prepared in paired-end libraries with ~200 bp insert size, and sequenced on an Illumina HiSeq2500 instrument with 100 bp read lengths, in a modification of a procedure described by Pritchard et al. 2012 (1). Large deletions and duplications are detected using methods described by Nord et al. 2011 (2).

Genes Tested (assay version 1)

Full Panel

ADA, AK2, AP3B1, ATM, BLM (RECQL3), BLNK, BTK, CARD11, CD25, CD27(TNFRSF7), CD3D, CD3E, CD3G, CD3Z, CD79aA (Igα), CD79bB (Igβ), CD8A, CHD7, CIITA (MHC2TA), CORO1A (Coronin 1A), CTLA4, DCLRE1C, DOCK8, EBF1, FOXN1 (WHN), FOXP3, GATA2, IGLL1 (λ5), IKAROS (IKZF1), IKBA (NFKBIA), IKBKB, IKBKG, IL2RG, IL7RA, ITK, JAK3, LCK, LIG4, LRRC8, LYST, MAGT1, MALT1, MRE11A, NBS1, NHEJ1 (Cernunnos/XLF), ORAI1, PIK3R1 (PI3K p85α subunit), PNP, PRF1, PRKDC (XRCC7/DNAPKcs), PTPRC (CD45), RAB27A, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SH2D1A (SAP), SP110, STAT1, STAT5B, STIM1, STK4 (MST1), STX11, STXBP2, TAP1, TAP2, TAPBP, TBX1, TTC7A, UNC13D (MUNC13-4), XIAP (BIRC4), ZAP70

SCID Subpanel

ADA, AK2, ATM, BLM, CD3D, CD3E, CD3G, CD247, CD8A, IL2RA, CD27, CHD7, CIITA, CORO1A, CTLA4, DCLRE1C, DOCK8, FOXP3, FOXN1, GATA2, IKBKB, IKBKG, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, MAGT1, MALT1, MRE11A, NBN, NFKBIA, NHEJ1, ORAI1, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SP110, STAT5B, STAT1, STIM1, STK4, TAP1, TAP2, TAPBP, TBX1, TTC7A, ZAP70

Congenital Agammaglobulinemia (Agamma/B cell) Subpanel

BLNK, BTK, CARD11, EBF1, IKZF1, CD79A, CD79B, GATA2, IGLL1, LIG4, LRRC8A, MALT1, NHEJ1, PIK3R1, PRKDC, RAG1, RAG2, SH2D1A

FHLH Subpanel

AP3B1, ITK, MAGT1, LYST, PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP

Requisition Form


UWMC Genetics Requisition

Sample Requirements and Specimen Handling

Ship specimens to:

CPT Codes & Pricing


For CPT codes, see the Laboratory Medicine Online Test Guide: Click here and enter "IMMUNOPLEX".

For pricing information, contact Reference Laboratory Services (206)685-6066 or (800)713-5198

Billing and Insurance Pre-Authorization


Reference Range


No mutation detected.

Further Information


References


  1. Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T. ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing. J Mol Diagn. (2012)14:357-66. PubMed

  2. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PNAS (2010) 107:12629-33.

  3. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.

  4. Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.

Specimen Requirements and Handling


For details regarding specimen collection, handling and transport, and for a link to our requisition form, see the Laboratory Medicine Online Test Guide for some-mnemonic

genetics/IMD (last modified 2016-10-31 13:45:07)