Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel

Condition Description

Hereditary periodic fever syndromes (HPFS) is a group of familiar autoinflammatory disorders with heterogeneous genetic causes. There are seven types of HPFS that have been characterized. Clinical features continue to be used reliably to assign patients to this general disease category. Identification of the precise genetic defect is important to permit carrier testing and early prenatal diagnosis. Molecular analysis is likely to expand the clinical spectrum of HPFS and may also provide data relevant to prognosis and future therapeutic intervention. HPFS is a very rare disorder. Although each HPFS presents with particular symptoms, globally they share intermittent, apparently unprovoked episodes of fever and inflammation. HPFS can be inherited in an autosomal dominant or autosomal recessive manner.

References:
  • Fietta (2004), Acta Biomed 75(2):92-9.
  • OMIM

Genes (7)

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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of hereditary periodic fever syndromes.
  • Carrier testing in adults with a family history of hereditary periodic fever syndromes.

Methodology

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.

Detection

Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Hereditary Periodic Fever Syndromes: Sequencing Panel

How to Order

Requisition Forms