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Test Code SCID UM Severe Combined Immune Deficiency (SCID) and Combined Immune Deficiency (CID) Panel

Important Note

Important Note:  This test (SCID UM) is a panel of genetic testing utilizing next generation sequencing. 

If testing desired is actually flow cytometry as followup for a positive SCID Newborn screen, please see separate listing for SCID NB F/U.  Note that specimen handling/storage is different for these two tests.

Clinical System Name

Severe Combined Immune Deficiency (SCID) and Combined Immune Deficiency (CID) Panel

Synonyms

SCID Panel

CID Panel

 

Description

This panel is useful for the evaluation of patients with suspected SCID or CID including:

  • Positive state newborn screening test for SCID
  • Low or absent T cells
  • May have low or absent B cells and/or natural killer (NK) cells
  • Early susceptibility to opportunistic infections and/or severe viral 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 55 genes in this panel include: 

ADA, AK2, ATM, BLM (RECQL3), CD3D, CD3E, CD3G, CD8A, CD27 (TNFRSF7), CD247, CHD7, CIITA (MHC2TA), CORO1A (Coronin 1A), CTLA4, DCLRE1C, DOCK8, FOXN1 (WHN), FOXP3, GATA2, IKBKB, IKBKG, IL2RA, IL2RG, ILR7, ITK, JAK3, LCK, LIG4, MAGT1, MALT1, MRE11A, NBN, NFKBIA (IKBA), NHEJ1 (Cernunnos/XLF), ORAI1, PNP, PRKDC (XRCC7/DNAPKcs), PTPRC (CD45), RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SP110, STAT1, STAT5B, STIM1, STK4 (MST1), TAP1, TAP2, TAPBP, TBX1, TTC7A, 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 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:

Spin: No

Aliquot: No

Temp: RT

Storage location: Affix large Cerner labels to tubes and place in room temp send-outs rack. Store extra labels and copy of requisition in the clear plastic box attached to CPA refrigerator.

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
No 8 weeks

 

Performing Laboratory

University of Washington Medical Center

Department

UW Medical Center

Laboratory Medicine – Genetics Lab

1959 NE Pacific St, Room NW220

SEATTLE, WA 98195-7110

(206) 598-6429

 

 

Reference Range

Interpretive report provided.

Methodology

Method: Next-generation sequencing

Analytical Volume:

Limitations:

CPT Codes

 81405, 81407, 81408, 81479       (updated 8/21/2017 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 suspected SCID or CID including:

  • Positive state newborn screening test for SCID
  • Low or absent T cells
  • May have low or absent B cells and/or natural killer (NK) cells
  • Early susceptibility to opportunistic infections and/or severe viral infections

This panel is estimated to detect pathogenic variant(s) in >80% of individuals who meet clinical criteria for SCID (A Kwan et al. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States. JAMA. 2014;312(7):729-38.)

 

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

Send Out Instructions

 

Reference Test Name:

Immunoplex SCID Subpanel

Reference Test Number: IMD- SCID Subpanel
Instructions: Ship at room temperature, avoid freezing sample. Send out M thru F with the UW courier. Keep a copy of the Batch Sheet for our records.