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Test Code IMMPX UM Immunoplex Panel

Clinical System Name

Immunoplex Panel

Synonyms

Immunoplex

Description

This panel is useful for the evaluation of patients with combined immune deficiency that appears to involve 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. The assay completely sequences all exons of these genes, detects large deletions and duplications, and has the potential to detect mosaicism.

 

The 74 genes in this panel include: 

ADA, AK2, AP3B1, ATM, BLM (RECQL3), BLNK, BTK, CARD11, CD3D, CD3E, CD3G, CD8A, CD27 (TNFRSF7), CD79A (Igalpha), CD79B (Igbeta), CD247, CHD7, CIITA (MHC2TA), CORO1A (Coronin 1A), CTLA4, DCLRE1C, DOCK8, EBF1, FOXN1 (WHN), FOXP3, GATA2, IGLL1 (lambda5), IKBKB, IKBKG, IKZF1 (IKAROS), IL2RA, IL2RG, ILR7, ITK, JAK3, LCK, LIG4, LRRC8A, LYST, MAGT1, MALT1, MRE11A, NBN, NFKBIA (IKBA), NHEJ1 (Cernunnos/XLF), ORAI1, PIK3R1 (PI3K p85alpha 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

 

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow Top/ACD A or B, Dark Green Top/Sodium Heparin (no serum separator)

Preferred Vol: 10 mL

Minimum Vol: 5.0 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 6 micrograms, concentration: at least 25 nanograms/microliter

Minimum Vol:  3 micrograms

 

Specimen: Fresh frozen tissue

Container(s): Sterile cup or tube

Preferred Vol: 200-300mg

Minimum Vol: 50mg

  

Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

 

Buccal, saliva, and prenatal specimens are not accepted for this test at this time.

Processing Instructions

Reject due to: Frozen whole blood

Spin: N

Aliquot: N

Temp: RT

Storage location: Place sample in CPA fridge sendouts rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp  
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA from blood or cultured fibroblasts Room temp 3-4 d
Extracted DNA from blood or cultured fibroblasts Refrigerated 1 y
Extracted DNA from blood or cultured fibroblasts Frozen Indefinitely
Fresh frozen tissue Frozen  
Cultured cells Room temp 3 days

 

Availability

STAT TAT
N 8 weeks

 

Performing Laboratory

University of Washington

Dept of Laboratory Medicine

Genetics Lab

1959 NE Pacific St, NW 220

Seattle, WA 98195

 

Phone Number: (206) 598-6429

Department

Department: Send Outs

 

Phone Number: (206) 987-2563

 

 

Reference Range

Interpretive report provided.

Methodology

Method: Next-generation sequencing

Analytical Volume:

Limitations:

CPT Codes

 81403, 81404, 81405, 81406, 81407, 81408, 81479        (updated 2/14/15 by dstern)

Special Instructions

Links to:

 

UW Medical Center Laboratory Medicine – Genetics Lab

 

Clinical Utility

This panel is useful for the evaluation of patients with combined immune deficiency that appears to involve 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.

 

Indications for testing include:
- Molecular genetic confirmation when one or more of the above conditions are suspected.

Send Out Instructions

 

Reference Test Name:

Immunoplex Panel

Reference Test Number: IMD - Full panel
Instructions: Send out M - F with the UW courier.