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  • Severe Combined Immunodeficiency

Published on December 09, 2019

Severe Combined Immunodeficiency (SCID)

Tube Type

Test ID LAB6745
EPIC Order SEVERE COMBINED IMMUNODEFICIENCY (SCID)
CPT Code(s) 81479
Group/Individual Test Individual
Laboratory Molecular Immunology Laboratory
Tube Station 30 Routine: 888 STAT
Specimen Routine: blood/lavender top; 3.0 mL minimum volume
Availability Routine: Monday-Friday
Turnaround Time 14 days
Reference Range Interpretation
Comments

Genes Targeted:

ADA ORAI1 RFXAP
CD3D PNP TAP1
CD3E PTPRC CIITA
DCLRE1C RAG1 RFX5
FOXN1 RAG2 TAPBP
IL2RG RMRP
IL7R STAT5B
JAK3 STIM1
LIG4 TBX1
NHEJ1 ZAP70

The Severe Combined Immunodeficiency (SCID) Sequencing assay is performed using capture probes targeting 25 genes with mutations covering approximately 90% of SCID Cases [1,2].  Large insertions and deletions/duplications will not be detected using this assay.

Captured genes are sequenced using Illumina technology.  The assay focuses on exonic regions harboring known disease-causing mutations.  Detection of insertions or deletions of greater than 2 basepairs has not been assessed.

This test was developed and its performance characteristics validated by the Molecular Immunology Laboratory.  It has not been cleared nor approved by the FDA.

References:

[1]  A. Bousfiha, L. Jeddane, C. Picard, F. Ailal, H. Bobby Gaspar, W. Al-Herz, T. Chatila, Y.J. Crow, C. Cunningham-Rundles, A. Etzioni, J.L. Franco, S.M. Holland, C. Klein, T. Morio, H.D. Ochs, E. Oksenhendler, J. Puck, M.L.K. Tang, S.G. Tangyre, T.R. Torgerson, J.L Casanova, K.E. Sullivan, The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencys, J. Clin Immunol. 38 (2018) 129-143. doi: 10.1007/s10875-017-0465-8.

[2]  C. Picard, H. Bobby Gaspar, W. Al-Herz, A. Bousfiha, J.L. Casanova, T. Chatila, Y.J. Crow, C. Cunningham-Rundles, A. Etzioni, J.L. Franco, S.M. Holland, C. Klein, T. Morio, H.D. Ochs, E. Oskenhendler, J. Puck, M.L.K. Tang, S.G. Tangye, T.R. Torgerson, K.E. Sullivan, International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity, J. Clin. Immunol. 38 (2018) 96-128.  doi: 10.1007/s10875-017-0464-9

Please call lab (984-974-4057) with questions.

Reviewed by Christopher Parker on December 09, 2019

Note: Reference ranges provided on this web site are for guidance only, and may not reflect the most recent changes. Refer to laboratory reports for current reference data.

UNC Hospitals
McLendon Clinical Laboratories
101 Manning Drive
Chapel Hill, NC 27514

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