Autoimmune lymphoproliferative syndrome (ALPS) [26 genes]

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder that affects the regulation of lymphocyte homeostasis, especially caused by alteration of lymphocyte processes. b>apoptosis that occur during T cell selection. The genetic test is a primary diagnosis method for patients who meet the clinical diagnostic criteria for ALPS: increase in double-negative (DN) T cells + chronic lymphadenopathy non-malignant and non-infectious. There are other analytical manifestations and non-specific symptoms present in ALPS and ALPS-like cases that increase complexity of the pathology diagnosis.

  • Unknown
  • At least 650 pathogenic variants described

  • Diagnosis and genetic counseling
  • Immunosuppressants
  • Monoclonal antibodies
  • Hematopoietic stem cell transplantation (HSCT)

The identification of clinically relevant variants allows an accurate molecular diagnosis and genetic counseling. Both dominant and recessive forms have been described. Genetic testing also provides value for treatment option evaluation.

The ALPS panel is indicated in those patients who meet the diagnostic criteria for ALPS and in whom there is suspicion of the disease.

  • Increase in DN T-cells
  • Reduction of CD27+ B-cells
  • Chronic non-malignant, non-infectious lymphadenopathy

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Autoimmune lymphoproliferative syndrome (ALPS)

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110278

Autoimmune lymphoproliferative syndrome (ALPS): View panel
  • CASP10
  • CASP8
  • CD27
  • CD70
  • CTLA4
  • FADD
  • FAS
  • FASLG
  • HNF1A
  • IKZF1
  • IL2RA
  • IL2RB
  • ITCH
  • ITK
  • KRAS
  • LAT
  • LRBA
  • MCM4
  • NRAS
  • PRKCD
  • RASGRP1
  • SH2D1A
  • STAT3
  • TNFAIP3
  • TNFRSF9
  • TPP3

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Bleesing J. JH. Autoimmune Lymphoproliferative Syndrome. Initial Posting: September 14, 2006; Last Update: August 24, 2017. GeneReviews®.
  2. Bousfiha A. et al. The 2017 IUIS Phenotypic Classification for Inmunodeficiencias primarias. J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.
  3. Dowdell KC1, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010 Jun 24;115(25):5164-9. doi: 10.1182/blood-2010-01-263145. Epub 2010 Apr 1.
  4. Lim MS, Straus SE, Dale JK, et al. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol 1998;153(5):1541-1550.
  5. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, Rieux-Laucat F, Siegel RM, Su HC, Teachey DT, Rao VK. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010;116:e35–40.