Complement system deficiencies [41 genes]

Defects in complement system components increase susceptibility to infection and autoimmune disorders, whereas defects in complement regulatory proteins may lead to serious disorders due to unrestricted activation. The clinical expression of genetically determined deficiencies of the complement system is variable and depends on the role of the deficient component in normal host defence and inflammation. Clinical features are diverse, but cluster into features that align with the known functions of complement: prevention of infection, disposal of apoptotic cells and immune complexes, and protection of endothelial surfaces.

  • Disseminated, recurrent infections
  • Inflammation
  • Onset: childhood to adulthood

  • ~1-10% of PIDs
  • 0,03% in general population

  • Diagnosis and genetic counseling
  • Vaccination against encapsulated bacteria
  • Antibiotics
  • Anti-inflammatory therapy

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

Complement system deficiencies

"*" 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-202110272

Complement system deficiencies: View panel
  • ADAMTS13
  • C1QA
  • C1QB
  • C1QC
  • C1R
  • C1S
  • C2
  • C3
  • C4A
  • C4B
  • C5
  • C6
  • C7
  • C8A
  • C8B
  • C8G
  • C9
  • CD46
  • CD55
  • CD59
  • CFB
  • CFD
  • CFH
  • CFHR1
  • CFHR2
  • CFHR3
  • CFHR4
  • CFHR5
  • CFI
  • CFP
  • DGKE
  • F12
  • FCN3
  • G6PD
  • MASP1
  • MASP2
  • MBL2
  • MMACHC
  • SERPING1
  • THBD
  • VTN

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.

Related panels
Complement system deficiencies [41 genes]

References

  1. Grumach AS, Kirschfink M. Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach. Mol Immunol. 2014;61(2):110-117. doi:10.1016/j.molimm.2014.06.030
  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. Prohászka Z, Nilsson B, Frazer-Abel A, Kirschfink M. Complement analysis 2016: Clinical indications, laboratory diagnostics and quality control. Immunobiology. 2016;221(11):1247-1258. doi:10.1016/J.IMBIO.2016.06.008
  4. Sullivan KE, Stiehm ER. Stiehm’s Immune Deficiencies. Elsevier; 2014. doi:10.1016/C2012-1-01317-3