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Test Code PerFev UM Periodic Fever Syndrome Sequencing Panel

Important Note

This next generation sequencing panel analyzes 13 genes (CARD14, ELANE, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TNFAIP3 and TNFRSF1A)

Clinical System Name

Periodic Fever Syndrome Sequencing Panel


Acne (PAPA) Syndrome (PSTPIP1)
Cyclic Neutropenia
ELANE (formerly ELA2)
Familial Cold Autoinflammatory Syndrome (NLRP3)
Familial Hibernian Fever (TNFRSF1A)
Familial Mediterranean Fever (FMF)
Hyper-IgD Syndrome (MVK)
Majeed Syndrome (LPIN2)
Muckle-Wells Syndrome (NLRP3, formerly CIAS1)
Pyoderma Gangrenosum (PSTPIP1)
Pyogenic Sterile Arthritis (PSTPIP1)

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants



Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 10 µg of purified DNA at a concentration of at least 20 µg/ml

Minimum Vol: 5 µg of purified DNA at a concentration of at least 20 µg/ml

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole blood Room temp 2 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely



N 28 d


Performing Laboratory



Department:     PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number:    (715) 387-0484

Reference Range

Interpretive report is provided.


Method: This next generation sequencing panel analyzes 8 genes (ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A, and NLRP12). For this NGS panel, the full coding regions plus ~20bp of non-coding DNA flanking each exon are sequenced for each of the genes listed below.  Sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization method, followed by massively parallel sequencing of the captured DNA fragments. Additional Sanger sequencing is performed for any regions not captured or with insufficient number of sequence reads. All pathogenic, undocumented and questionable variant calls are confirmed by Sanger sequencing.


Analytical Volume:


Special Instructions

Links to:




Sample details, PreventionGenetics



Clinical Utility

Periodic Fever Syndromes (PFS) (also known as monogenic autoinflammatory syndromes) are a group of disorders highlighted by recurrent fever and inflammatory episodes. Fever episodes can range from hours up to ~ 2 weeks with recurrences ranging from several bouts per month to a few per year. PFS frequently involve inflammation of the skin, serous membranes, joints, lymph nodes, gastrointestinal tract, and nervous system. Onset of PFS occurs during the first year of life or early childhood with only Familial Mediterranean Fever (FMF) and Tnf Receptor-Associated Periodic Fever Syndrome (Traps) having cases of adult onset described. In severe cases, development of amyloidosis may occur. PFS are caused by aberrant inflammasome activation leading to heightened interleukin 1 levels and innate immune dysregulation. Differential diagnosis of individual PFS is important for employing appropriate therapeutics such as colchicine to treat FMF or antibiotics for cyclic neutropenia. PFS may mirror other immune dysfunction disorders such as cyclic neutropenia and severe combined immunodeficiency due to recurrent fever bouts, but unlike those disorders, bouts are not a result of recurrent infections (Caso et al. 2013; Touitou et al. 2013).

Disorders included in the PFS panel include Familial Mediterranean Fever (FMF), Familial Cold Autoinflammatory Syndrome (FACS), Muckle-Wells Syndrome (MWS), Chronic Infantile Neurological Cutaneous Articular syndrome (CINCA), Tumor necrosis factor Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate Kinase Deficiency (MKD), NLRP12-associated autoinflammatory disorder, Pyogenic Arthritis Pyoderma gangrenosum and cystic Acne syndrome (PAPA), Majeed syndrome, and cyclic neutropenia.


Send Out Instructions

Reference Test Name: Periodic Fever Syndromes NextGen Sequencing (NGS) Panel
Reference Test Number: 1931
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery