Immunoplex Panel

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General Information

Lab Name
Immunoplex Panel
Lab Code
IMD
ORCA Name
(Contact Lab For Information)
Description

Immunoplex™ panel 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 hemophagocytic 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 under Synonyms. 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).

References
  • Pritchard CC, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012, 14:357-66. 22658618
  • Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
  • Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
  • Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition form
  2. Check "Immunoplex Panel"
  3. Specify subpanel (full, SCID, Agamma/B Cell, or FHLH)

Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).

Synonyms
ACP5, ADA, ADA2/CECR1, ADAM17, ADAR, AICDA, AP1S3, AP3B1, AP3D1, ATM, ATP6AP1, B2M, BACH2, BCL10, BLM (RECQL3), BLNK, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CASP10, CASP8, CCBE1, CD19, CD247, CD27(TNFRSF7), CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A(Igα), CD79B(Igβ), CD81, CDCA7, CEBPE, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CHD7, CLPB, COPA, CORO1A (Coronin 1A), CR2, CSF2RA, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBB, DCLRE1B, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, ELANE, ERCC6L2, FAAP24, FADD, FAS, FASLG, FCGR3A, FCN3, FOXN1(WHN), FOXP3, FPR1, GATA2, GINS1, HAX1, HELLS, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1(λ5), IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL1RN, IL21, IL21R, IL2RA (CD25), IL2RG, IL7R, INO80, IRAK4, IRF3, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK1, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP2, MCM4, MOGS, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYSM1, NBN, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKBIA, NHEJ1 (Cernunnos/XLF), NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, ORAI1, OTULIN, PARN, PGM3, PIK3CD, PIK3R1 (PI3K p85α subunit), PLCG2, PMS2, PNP, POLA1, POLE, POLE2, PRF1, PRKCD, PRKDC (XRCC7/DNAPKcs), PSMB8, PTEN, PTPRC (CD45), RAB27A, RAC2, RAG1, RAG2, RASGRP1, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RPSA, SAMD9, SAMD9L, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A (SAP), SLC29A3, SLC35C1, SLC46A1, SMARCAL1, SMARCD2, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4 (MST1), STN1, STX11, STXBP2, TAP1, TAP2, TAZ, TBK1, TCN2,TERC, TFRC, TINF2, TIRAP, TLR3, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF1A, TPP1, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, XIAP (BIRC4), ZBTB24 agammaglobulinemia, immunodeficiencies, lymphohistiocytosis
Components

Interpretation

Method

Next-generation sequencing.

Genes Tested (Assay Version 3)

Full Panel: ACP5, ADA, ADA2/CECR1, ADAM17, ADAR, AICDA, AP1S3, AP3B1, AP3D1, ATM, ATP6AP1, B2M, BACH2, BCL10, BLM (RECQL3), BLNK, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CASP10, CASP8, CCBE1, CD19, CD247, CD27(TNFRSF7), CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A(Igα), CD79B(Igβ), CD81, CDCA7, CEBPE, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CHD7, CLPB, COPA, CORO1A (Coronin 1A), CR2, CSF2RA, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBB, DCLRE1B, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, ELANE, ERCC6L2, FAAP24, FADD, FAS, FASLG, FCGR3A, FCN3, FOXN1(WHN), FOXP3, FPR1, GATA2, GINS1, HAX1, HELLS, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1(λ5), IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL1RN, IL21, IL21R, IL2RA (CD25), IL2RG, IL7R, INO80, IRAK4, IRF3, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK1, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP2, MCM4, MOGS, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYSM1, NBN, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKBIA, NHEJ1 (Cernunnos/XLF), NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, ORAI1, OTULIN, PARN, PGM3, PIK3CD, PIK3R1 (PI3K p85α subunit), PMS2, PNP, POLA1, POLE, POLE2, PRF1, PRKCD, PRKDC (XRCC7/DNAPKcs), PSMB8, PTEN, PTPRC (CD45), RAB27A, RAC2, RAG1, RAG2, RASGRP1, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RPSA, SAMD9, SAMD9L, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A (SAP), SLC29A3, SLC35C1, SLC46A1, SMARCAL1, SMARCD2, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4 (MST1), STN1, STX11, STXBP2, TAP1, TAP2, TAZ, TBK1, TCN2,TERC, TFRC, TINF2, TIRAP, TLR3, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF1A, TPP1, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, XIAP (BIRC4), ZBTB24

SCID Subpanel: ADA, ATM, B2M, BCL10, CARD11, CD247, CD3D, CD3E, CD3G, CDCA7, CHD7, CORO1A (Coronin 1A), DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, FOXN1 (WHN), GINS1, HELLS, IKBKG, IL2RG, IL7R, LAT, LCK, LIG1, LIG4, MALT1, MSN, MYSM1, NFKBIA, NHEJ1 (Cernunnos/XLF), NHP2, NOP10, NSMCE3, ORAI1, PGM3, PNP, POLE2, PRKDC (XRCC7/DNAPKcs), PTPRC (CD45), RAG1, RAG2, RFX5, RFXANK, RFXAP, RHOH, RMRP, SEMA3E, STIM1, STK4, TAP1, TAP2, ZBTB24

Congenital Agammaglobulinemia (Agamma/B cell) Subpanel: ADA2/CECR1, ATP6AP1, BACH2, BLNK, BTK, CARD11, CD19, CD27(TNFRSF7), CD79A(Igα), CD79B(Igβ), CD81, CR2, CTLA4, IGHM, IKZF1, LIG1, LRBA, MOGS, MS4A1, NFKB1, NFKB2, PIK3CD, PIK3R1, PTEN, SH2D1A (SAP), STAT1, STAT3, TNFRSF13B, TRNT1

FHLH Subpanel: ADA, AP3B1, AP3D1, BTK, CD27(TNFRSF7), CD40LG, CD70, CTPS1, FAAP24, ITK, LRBA, LYST, MAGT1, MCM4, MVK, NFKB1, NLRC4, PIK3CD, PIK3R1 (PI3K p85α subunit), PNP, PRF1, PRKCD, RAB27A, RASGRP1, SH2D1A (SAP), STK4 (MST1), STX11, STXBP2, WAS, XIAP

Neutrophil Defects Subpanel: AP3B1, CEBPE, CLPB, CSF2RA, CTSC, CXCR4, CYBB, ELANE, FPR1, GATA2, GINS1, HAX1, ITGB2, JAGN1, LAMTOR2, LYST, NCF1, NCF2, NCF4, RAB27A, RAC2, SBDS, SLC35C1, SMARCD2, TAZ, USB1, VPS13B, VPS45, WAS, WDR1

Inflammatory Interferonopathy Subpanel: ACP5, ADA2/CECR1, ADAM17, ADAR, AP1S3, CARD14, COPA, IFIH1, IL1RN, LPIN2, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, POLA1, PSMB8, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC29A3, TMEM173, TNFAIP3, TNFRSF1A, TREX1, TRNT1, USP18, WDR1

ALPS Subpanel: CASP10, CASP8, CTLA4, FADD, FAS, FASLG, ITK, KRAS, LRBA, MAGT1, NRAS, PIK3CD, PIK3R1, PTEN, STAT3

Early-Onset Enteropathy Subpanel: ADAM17, AICDA, BACH2, BTK, CARD11, CD3G, CD40LG, CTLA4, CYBB, DCLRE1C, DOCK8, FOXP3, ICOS, IKBKG, IL10, IL10RA, IL10RB, IL21, IL2RA(CD25), ITCH, ITGB2, JAK1, LIG4, LRBA, MALT1, MVK, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKBIA, NLRC4, NLRP12, PIK3CD, PIK3R1, PTEN, RAG1, RAG2, STAT1, STAT3, STAT5B, STXBP2, TNFAIP3, TTC37, WAS, XIAP (BIRC4)

Reference Range
See individual components
Ref. Range Notes

No mutations dedected.

References
  • Pritchard CC, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012, 14:357-66. 22658618
  • Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
  • Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
  • Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
Guidelines

Ordering & Collection

Specimen Type
Peripheral Blood, cultured cells from skin biopsy, purified DNA from peripheral blood or cultured cells
Collection

BLOOD:

  • 10 mL whole blood in LAVENDER TOP EDTA tube.
  • Also acceptable: YELLOW TOP ACD tube, purified DNA from peripheral blood or cultured cells.

SKIN BIOPSY:

  • Collection and transport: Obtain 2-4 mm punch biopsy of skin sample under sterile conditions and place in transport media (e.g. Alpha-MEM media, RPMI). Transport media can be supplied by the lab; call 206-598-4488 to request. If transport media is not available, the following media are acceptable alternatives if shipping time will not exceed 24 hours: lactated Ringer's solution, viral transport medium, or sterile saline. DO NOT USE formaldehyde, formalin, alcohol, or 5% dextrose, or tissue culture medium buffered with bicarbonate.

CULTURED CELLS:

  • (2) T23 or (1) T75 flask (minimum 1-T25 flask)*.

*Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide Maternal Cell Contamination [MCC] for ordering and specimen requirements)

Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition form
  2. Check "Immunoplex Panel"
  3. Specify subpanel (full, SCID, Agamma/B Cell, or FHLH)

Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).

Handling Instructions

Ship specimen at room temperature for overnight delivery.

Blood specimens can be held for up to 7 days before shipping if refrigerated.

Ship specimens to:

UW MEDICAL CENTER

LABORATORY MEDICINE - GENETICS LAB

1959 NE PACIFIC ST, ROOM NW220

SEATTLE, WA 98195-7110

Quantity
requested: Entire sample
minimum: 5 mL whole blood

Processing

Processing

Blood: Refrigerate whole blood

Unacceptable Conditions: Frozen or clotted specimens

Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable

Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.

Performance

LIS Dept Code
Genetics (GEN)
Performing Location(s)
UW-MT Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email: genelab@uw.edu

Supervisor

Robert Livingston, PhD bobl@uw.edu

Genetic Counselors

Angela Jacobson, MS, LGC agibson@uw.edu
Sarah Paolucci, MA, MS, LGC, spaolucc@uw.edu
Jenna Huey, MS, LGC, jlhuey@uw.edu

Faculty

Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Karen Stephens, PhD, FACMG
Jonathan F. Tait, MD, PhD
Vera Paulson, MD, PhD
Jillian Buchan, PhD, FACMG

Frequency
Results within 4 weeks, once sample arrives in the laboratory.
Available STAT?
No

Billing & Coding

CPT codes
Billing Comments

For additional test/billing information, see following page: Immunoplex™ CPT codes.

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

Billing and Insurance Pre-Authorization

We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).

Email: ngsbill@uw.edu or call 1-855-320-4869 for more information.

Genetics Preauthorization Form

LOINC
51967-8