ImmunoPlex™ - Immune Deficiency Gene Panel
- Requisition Form
- Sample Requirements and Specimen Handling
- CPT Codes & Pricing
- Billing and Insurance Pre-Authorization
- Reference Range
- Further Information
- Specimen Requirements and Handling
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).
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)
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
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
AP3B1, ITK, MAGT1, LYST, PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP
- Check "Immunoplex Panel"
- Specify subpanel (full, SCID, Agamma/B Cell, or FHLH)
Sample Requirements and Specimen Handling
- Collection: 10 mL whole blood in LAVENDER TOP EDTA tube. Also acceptable: YELLOW TOP ACD tube.
- Handling: Ship at room temperature overnight delivery. OK to hold up to 7 days before shipping if refrigerated.
- Minimum: 5 mL whole blood
Ship specimens to:
- UW MEDICAL CENTER
- LABORATORY MEDICINE - GENETICS LAB
- 1959 NE PACIFIC ST, ROOM NW220
- SEATTLE, WA 98195-7110
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
We offer insurance pre-authorization services
firstname.lastname@example.org , 1-855-320-4869
No mutation detected.
ImmunoPlex™ Inquiries: 1-800-713-5198
Other tests offered by the Genetics and Solid Tumor Diagnostic Laboratory
- Supervisor: Robert Livingston, Ph.D.
- Genetic Counselor: Angela Jacobson, M.S., L.G.C.
- Genetic Counselor: Lauren Thomas, M.S., L.G.C.
- Director: Colin C. Pritchard, M.D., Ph.D.
- Director: Brian Shirts, M.D., Ph.D.
- Director: Karen Stephens, Ph.D.
- Director: Jonathan Tait, M.D., Ph.D.
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
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.
Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.
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