Defects in the genes encoding the terminal components of the complement pathway (C5 to C9) predispose to recurrent systemic Neisseria infections, because the elimination of these bacteria depends largely on C5b-9-mediated lysis. Additionally, deficiency of properdin (encoded by CFP) generally leads to severe Neisseria infections.
Rare
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. Vaccination with a multivalent anti-meningococcal vaccine and antibiotic prophylaxis are measures considered in this clinical context.
This diagnostic panel is highly specific when there is a biochemical deficiency in the terminal components of complement as an inherent cause of predisposition to Gram-negative (-) bacterial infections.
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
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202008267
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.
