Autoimmune diseases (basic panel) [50 genes]

Autoimmune disorders are mainly a consequence of defects during tolerance processes to autoantigens. The genetic load has been widely related to autoimmune diseases, with monogenic forms and risk factors of genetic origin. Our panels are mainly focused on monogenic causes but also include genetic alterations that confer susceptibility to the development of the disease. Clinical manifestations are frequently characterized by the presence of autoantibodies, tissue damage without apparent external cause or dysregulation of lymphocyte homeostasis, but may present a wide spectrum of symptoms that make diagnosis difficult.

~1/10.000 – 1/100.000 (monogenic forms)

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

The identification of a genetic cause allows a precise molecular diagnosis to be made and genetic counseling to be provided. In some cases, detection of a defect in a particular biochemical pathway can help evaluate treatment options.

This panel is indicated when there is suspicion of a monogenic autoimmune disease. The pathologies included in this panel are heterogeneous, although they may present overlapping characteristics.

  • Autoantibodies
  • Tissue damage
  • Multisystemic manifestations
  • Dysregulation of lymphocyte homeostasis

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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

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Autoimmune diseases (basic panel)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110277

Autoimmune diseases (basic panel): View panel
  • ADAR
  • AIRE
  • ARPC1B
  • C1QA
  • C1QB
  • C1QC
  • C2
  • C3
  • CASP10
  • CASP8
  • CD46
  • CD70
  • COPA
  • CTLA4
  • DNASE1
  • DNASE1L3
  • FADD
  • FAS
  • FASLG
  • FOXP3
  • ICOS
  • ICOSLG
  • IFIH1
  • IL2RA
  • IL2RB
  • ITCH
  • ITK
  • LAT
  • LCK
  • LIG4
  • LRBA
  • LYST
  • NCF2
  • NFKB1
  • NLRC4
  • NOD2
  • NRAS
  • PDGFRA
  • PSMG2
  • RC3H1
  • SH2D1A
  • STAT3
  • STAT4
  • STAT5B
  • STIM1
  • STK4
  • TMEM173
  • TOM1
  • TPP2
  • ZAP71

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. Gutierrez-Arcelus M, Rich SS, Raychaudhuri S. Autoimmune diseases – connecting risk alleles with molecular traits of the immune system. Nat Rev Genet. 2016 Mar;17(3):160-74. doi: 10.1038/nrg.2015.33. Epub 2016 Feb 15.
  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. Plander M, Kalman B. Rare autoimmune disorders with Mendelian inheritance. Autoimmunity. 2016 Aug;49(5):285-97. doi: 10.1080/08916934.2016.1183658.Epub 2016 May 20. Review.
  4. Scofield RH. Genetics of systemic lupus erythematosus and Sjögren’s syndrome. Curr Opin Rheumatol. 2009 Sep; 21(5):448-53. doi: 10.1097/BOR.0b013e32832f0861. Review.