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Periodic Fever Syndromes

  • MEFV
  • TNFRSF1A
  • MVK
  • NLRP3 (CIAS1)
  • ELANE (ELA2)
  • PSTPIP1
  • LPIN2
The periodic fever syndromes are characterized by seemingly unprovoked episodes of inflammation and fever. Many of these syndromes share similar clinical characteristics, making clinical diagnosis difficult in many cases. However, accurate diagnosis is important in determining the most effective form of treatment.

GeneDx offers a custom-designed sequencing array to simultaneously sequence seven genes associated with the periodic fever syndromes, allowing for quicker and more cost-effective testing. Bi-directional dideoxy-based DNA sequencing or another appropriate method is used to confirm any mutations identified. Sequencing for the ELANE gene will still be available as a stand-alone test and is recommended for cases concerning severe congenital neutropenia. Please see the ELANE information sheet on the web site for further information.

ATTENTION: For any person who has previously had testing performed at GeneDx for 2 or more of these genes, analysis for this resequencing panel is available for $900

Previously offered single gene tests (MEFV (exons 2,3 and 10), TNFRSF1A (exons 2 through 5), MVK (T1 and T2), NLRP3 aka CIAS1 (exon 3), PSTPIP1 T1 and T2)) will remain available until further notice.

Note, that buccal brushes cannot be accepted for this test.

Below is a list of the genes and associated periodic fever syndromes included on the resequencing array. Please read the information sheet for more detailed clinical information concerning each syndrome.

MEFV: Familial Mediterranean Fever (FMF) - Approximately 70-80% of individuals that have a clinical diagnosis of FMF are estimated to carry at least one identifiable FMF mutation.

TNFRSF1A: TNF Receptor-Associated Periodic Syndrome (TRAPS, Familial Hibernian Fever) - Studies indicate that TNFRSF1A mutations can be identified in approximately 30-50% of familial cases and upwards of 10% in sporadic cases.

MVK: Hyper-IgD Syndrome (HIDS) - Previous studies indicate that greater than 50% of individuals with a clinical diagnosis of HIDS have an identifiable MVK mutation.

NLRP3 (CIAS1): Muckle-Wells Syndrome (MWS), Familial Cold Autoinflammatory Syndrome (FCAS), Neonatal Onset Multisystem Inflammatory Disease (NOMID) - One of the largest studies to date indicates that approximately 75% of individuals with a clinical diagnosis of MWS, ~90% with FCAS and ~50% with NOMID have identifiable CIAS1 mutations.

ELANE: Severe Congenital Neutropenia (SCN) and Cyclic Neutropenia (CN) - Between 38-88% of individuals diagnosed with SCN and greater than 44% with CN have identifiable ELANE mutations. The periodic fever resequencing array is appropriate for patients with cyclic neutropenia; however, the dideoxy-based DNA sequencing test (GeneDx Test Code #105) is recommended for patients with severe congenital neutropenia.

PSTPIP1: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome (PAPA) - Due to limited numbers of studies, it is unclear what percentage of individuals diagnosed with PAPA have identifiable PSPIP1 mutations.

LPIN2: Majeed syndrome - Due to the extreme rarity of Majeed syndrome, it is difficult to determine accurate sensitivity. Of three families studies with Majeed syndrome, all had mutations in LPIN2.



Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  


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