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  • Autoimmune Lymphoproliferative Syndrome

Published on December 09, 2019

Autoimmune Lymphoproliferative Syndrome (ALPS)

Tube Type

Test ID LAB6749
EPIC Order AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS)
CPT Code(s) 81479
Group/Individual Test Individual
Laboratory Molecular Immunology Laboratory
Tube Station 30
Specimen Routine: blood/lavender top; 3.0 mL minimum volume
Availability Routine: Monday-Friday
Turnaround Time 14 days
Reference Range Interpretation
Comments

Genes Targeted:

CASP8 CASP10 FADD
FASLG ITK KRAS
FAS MAGT1 NRAS
CTLA4

The ALPS sequencing assay was performed using unsorted cells with capture probes targeting 14 genes with mutations covering approximately 78% of ALPS cases [1,2]. *The assay does not detect somatic mutations in FAS or provide deletion/duplication detection. If clinically indicated, sorted double negative T cells should be evaluated for somatic mutations in FAS. Additionally, approximately 20% of ALPS patients lack a genetic diagnosis [3].

Captured genes were 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]         D.T. Teachey, A.E. Seif, S.A. Grupp, Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS), Br. J. Haematol. 148 (2010) 205–216. doi:10.1111/j.1365-2141.2009.07991.x.

[2]         F. Rieux-Laucat, F. Le Deist, A. Fischer, Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. Cell Death Differ. 10 (2003) 124–133. doi:10.1038/sj.cdd.4401190.

[3]         J.J.H. Bleesing, Autoimmune lymphoproliferative syndrome (ALPS). Curr. Pharm. Des. 9 (2003) 265–278.

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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