Systemic lupus erythematosus syndrome (SLE-like) [8 genes]

Complement’s classical pathway deficiency

The classic pathway of the complement system is activated mainly by immune complexes. The rheumatic diseases observed in patients with a complement deficiency may be the consequence of an altered humoral immunity since this system is important to generate and express an adequate antibody-mediated response. It is also partially required for tolerance induction. Rheumatic and autoimmune manifestations frequently occur in patients with deficiencies in C1q and C3. Furthermore, some rheumatic disorders may be the consequence of an altered immune response to recurrent or chronic viral infections.

Rare

  • Diagnosis and genetic counseling
  • Anti-inflammatory therapy
  • Vaccination
  • Prophylactic antibiotics

The pathogenic variant identification in the genes of the panel allows for a precise molecular diagnosis, in addition to providing genetic advice. Positive genetic testing can help direct patient management and evaluate treatment options.

This panel focuses on the study of lupus-type pathologies, which are based on defects in the classic pathway of the complement system (CS). Therefore, the deficiency of any of the factors of the classical pathway may be associated with the development of SLE.

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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

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Systemic lupus erythematosus syndrome (SLE-like)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008268

Systemic lupus erythematosus syndrome (SLE-like): View panel
  • C1QA
  • C1QB
  • C1QC
  • C1R
  • C1S
  • C2
  • C4A
  • C4B

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. Casciola-Rosen LA. Autoantigens targeted in systemic lupus erythematosus are clustered in two populations of surface structures on apoptotic keratinocytes. J Exp Med. 1994;179(4):1317-1330. doi:10.1084/jem.179.4.1317
  2. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  3. Sullivan KE, Stiehm ER. Stiehm’s Immune Deficiencies. Elsevier; 2014. doi:10.1016/C2012-1-01317-3