Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication
Also known as: PRFEVERPAN
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2
- 35474-6
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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