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Laboratory Test Directory

NGS Periodic Fever Syndromes Panel (Updated)

Components

Name Method Department Units
NGS Periodic Fever Syndromes Panel Next Generation Sequencing (NGS)
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Keep at room temperature or refrigerate

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Frozen specimen
  • Wrong collection tube

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of Test Requisition Form is required, and submission of informed consent is recommended (but not required).

Using Next Generation Sequencing (NGS) technology, this test simultaneously sequences and analyzes 8 genes associated with periodic fever syndromes, including the MEFVTNFRSF1AMVKNLRP3NLRP12ELANEPSTPIP1, and LPIN2 genes. Any reportable mutations identified by NGS (pathogenic variants and variants of unknown clinical significance) will be confirmed by Sanger sequencing.

Hereditary periodic fever syndromes are a group of genetic disorders characterized by periodic (episodic) fevers that occur in children despite the absence of an infectious cause. There are many genes known to cause hereditary periodic fever syndromes, and many of these syndromes have a specific treatment based on the underlying genetic cause.

  • Mutations in the MEFV gene cause autosomal recessive Familial Mediterranean fever.
  • Mutations in the TNFRS1A gene cause autosomal dominant Familial Hibernian fever, also known as TNF-receptor-associated periodic syndrome (TRAPS).
  • Mutations in the MVK gene cause autosomal recessive Mevalonate kinase deficiency, Hyper-IgD syndrome, and Mevalonic aciduria.
  • Mutations in the NLRP3 gene cause autosomal dominant Chronic infantile neurologic cutaneous and articular (CINCA) syndrome, Neonatal-onset multisystem inflammatory disease (NOMID), Cryopyrin-associated periodic syndrome 3, Familial cold-induced inflammatory syndrome 1, and Muckle-Wells syndrome.
  • Mutations in the NLRP12 cause autosomal dominant Familial cold autoinflammatory syndrome 2.
  • Mutations in the ELANE (also known as ELA2) gene cause autosomal dominant Cyclic neutropenia and autosomal dominant Severe congenital neutropenia 1.
  • Mutations in the PSTPIP1 gene cause autosomal dominant Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.
  • Mutations in the LPIN2 gene cause autosomal recessive Majeed syndrome.

In addition to the 8 genes evaluated by this tst, it is likely that one or more additional as-yet-undefined genes are associated with periodic fever phenotype. Thus, a negative result does NOT rule out any given clinical diagnosis.

Targeted mutation analysis is available for other family members when a proband mutation is known and proband sample is available to be used as a positive control sample (see test code: FN).

Forms

Lab Form

CPT Code

  • 81404
  • 81479