INFINITI FMF Assay

  • The INFINITI FMF Assay is CE Marked.
  • The INFINITI FMF is designed to identify specific genetic mutations.
  • The INFINITI FMF utilizes the FMF Intellipac, FMF Amp Mix and FMF BioFilmChip Microarray.
  • The INFINITI FMF Assay is automated by the INFINITI Analyzer.

Analytes Detected: 
  • A744S       K695R      M680I (G/A)            R202Q                    
  • E148Q      M694V      M680I (G/C)            R761H
  • F479L       M694I        P369S                       V726A
  • I692del
Features: 
  • Multiplexed determination of 13 genetic variants.

  • Rapid turnaround time enhances workflow efficiency
  • Load & Go automated on the INFINITI/INFINITI PLUS Analyzer.
  • Replicate determinations on a single BioFilmChip Microarray ensures quality results.

  • Highly specific primers allow for proper identification of mutation zygosity.

  • Rapid automation enhances workflow efficiency and simplifies diagnosis.
Sample Type and Volume: 
  • Uses 0.2 - 2.0 mL of peripheral whole blood in EDTA (purple top) tube.
  • Requires 50 ng DNA / reaction
Clinical Relevance: 
  • 65-95% of all cases of FMF in afflicted populations can be attributed to 5 MEFV mutations: E148Q, M680I, M694I, M694V, V726A.
  • 1 in 200 people in afflicted populations have the disease.
  • 1 in 5 members of these populations are carriers.
Clinical Utility: 
  • Due to non-specific clinical symptoms, molecular genetic analysis significantly improves early and correct diagnosis of FMF and allows the beginning of lifelong prophylactic treatment of affected individuals with colchicine.
  • Most clinically relevant panel of 13 variants individually genotyped, covering multiple ethnicities, including R202Q for Greek patients
  • Robust assay allows for accurate first time diagnosis without need to reference patient history.
References: 
  1. Bakkaloglu A (2003). "Familial Mediterranean fever". Pediatr Nephrol 18 (9): 853–9. doi:10.1007/s00467-003-1185-2. PMID 12836090. 
  2. Delibas A, Oner A, Balci B, Demircin G, Bulbul M, Bek K, Erdogan O, Baysun S, Yilmaz E (2005). "Genetic risk factors of amyloidogenesis in familial Mediterranean fever". Am J Nephrol 25 (5): 434–40. doi:10.1159/000087824. PMID 16118480. 
  3. Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A (2003). "The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever". Arthritis Rheum 48 (4): 1149–55. doi:10.1002/art.10944. PMID 12687559.

INFINITI FMF Assay