FEVER SYNDROMES
Fever syndromes, also called autoinflammatory syndromes, are hereditary diseases characterized by recurrent fever episodes and systemic inflammation due to genetic mutations in inflammation regulation. Known fever syndromes include familial Mediterranean fever (FMF), TRAPS, and CAPS.
Request Test
- Sample material: EDTA whole blood
- Testing methods: Next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics using PCR)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific testing services in this area:
| INDICATION | ANALYSIS |
| Autoinflammatory syndrome | Gene panel |
| Familial Mediterranean fever (FMF) | Single gene analysis (MEFV) |
| Periodic fever syndrome | Gene panel |
The genes analyzed in the respective gene panels are always based on the current versions of Genomics England PanelApp, PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic disease presentation, it is possible to request exome sequencing based on phenotypic features.