Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR42779Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2007370CPT Codes 81404, 81479

Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication

Also known as: PRFEVERPAN

Clinical Use

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Use

Periodic fever syndromes, also known as autoinflammatory disorders, are characterized by recurrent inflammatory symptoms such as fever. This test is primarily used to confirm a diagnosis of a periodic fever syndrome, such as familial Mediterranean fever (FMF), Majeed syndrome, neonatal onset multisystem inflammatory disease (NOMID), Blau syndrome, and others. The test is used for predictive diagnostic or carrier testing, especially in individuals with a family history of these syndromes. It analyzes several genes related to these conditions to detect pathogenic variants.

Special Instructions

The test requires specific patient history forms and informed consent for genetic testing, especially for New York patients. It is important to note that specimens from New York clients will be sent out to a New York state-approved laboratory, as the test is not New York state approved.

Limitations

This test detects variants within the coding regions and intron-exon boundaries of the targeted genes. However, it may not detect deletions, duplications, or insertions of any size, regulatory region variants, and deep intronic variants. The test may also face limitations due to the presence of pseudogenes, repetitive or homologous regions, and is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions. Additionally, diagnostic errors can occur due to rare sequence variations.

Test Details