Autoimmune diseases (extended panel) [168 genes]

Disorders of autoimmunity are mainly a consequence of defects during the generation of autoantigen tolerance mechanisms. Genetic burden has been widely related to autoimmune disorders, existing monogenic forms, and many genetic risk factors. Our approach focuses on monogenic disorders and also includes genetic alterations that confer susceptibility to disease development. Clinical manifestations are frequently characterized by the presence of autoantibodies, tissue damage without known external cause, or lymphocyte homeostasis dysregulation, but they can present with a wide spectrum of symptoms, which makes diagnosis difficult.

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

~1:10.000 a 1:100.000 (monogenic forms)

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

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How to order

1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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

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Autoimmune diseases (extended panel)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110275

Autoimmune diseases (extended panel): View panel
  • ACP5
  • ADAR
  • AIRE
  • ANXA11
  • APOL1
  • ARPC1B
  • BANK1
  • BLK
  • C1QA
  • C1QB
  • C1QC
  • C1QTNF4
  • C1R
  • C1S
  • C2
  • C3
  • C4A
  • C4B
  • CASP10
  • CASP8
  • CCL2
  • CD226
  • CD27
  • CD46
  • CD55
  • CD70
  • CFB
  • CFH
  • CFHR1
  • CFHR2
  • CFHR3
  • CFHR4
  • CFHR5
  • CFI
  • CIITA
  • CLEC16A
  • COPA
  • CR2
  • CTLA4
  • CXCL13
  • CXCR5
  • CYBB
  • DDX58
  • DEF6
  • DGAT1
  • DNASE1
  • DNASE1L3
  • DNASE2
  • DNMT3A
  • DOCK8
  • EIF2AK2
  • EPCAM
  • ETS1
  • FADD
  • FAS
  • FASLG
  • FCGR2A
  • FCGR2B
  • FCGR3A
  • FCGR3B
  • FOXP3
  • GUCY2C
  • HAS2
  • HNF1A
  • HTRA2
  • ICOS
  • ICOSLG
  • IFIH1
  • IKZF1
  • IKZF3
  • IL10
  • IL12A
  • IL12B
  • IL2RA
  • IL2RB
  • IRAK1
  • IRF5
  • IRF7
  • IRF8
  • ISG15
  • ITCH
  • ITGAM
  • ITK
  • KRAS
  • LAT
  • LCK
  • LIG4
  • LRBA
  • LYST
  • MAN2B1
  • MASP2
  • MBL2
  • MC2R
  • MCM4
  • MECP2
  • MICB
  • MYH9
  • MYO5B
  • NCF1
  • NCF2
  • NEUROG3
  • NFAT5
  • NFKB1
  • NLRC4
  • NOD2
  • NRAS
  • OAS1
  • PDCD1
  • PDGFRA
  • PEPD
  • PLA2R1
  • PRKCD
  • PROC
  • PSMB10
  • PSMB3
  • PSMB4
  • PSMB8
  • PSMB9
  • PSMG2
  • PTEN
  • PTPN22
  • PTPRC
  • RAG2
  • RASGRP1
  • RC3H1
  • RECQL4
  • REL
  • RIPK1
  • RNASEH2A
  • RNASEH2B
  • RNASEH2C
  • SAMHD1
  • SH2D1A
  • SHOC2
  • SIAE
  • SKIV2L
  • SLC26A3
  • SLC39A7
  • SLC9A3
  • SNX10
  • SPINT2
  • STAT1
  • STAT3
  • STAT4
  • STAT5B
  • STIM1
  • STK4
  • TCF7
  • THBD
  • TLR5
  • TMEM173
  • TNFAIP3
  • TNFRSF13B
  • TNFRSF4
  • TNFRSF9
  • TNFSF11
  • TNFSF4
  • TNIP1
  • TOM1
  • TPP2
  • TREX1
  • TRIM21
  • TTC37
  • TYK2
  • UBAC2
  • UBE2L3
  • UHRF1BP1
  • 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.