Invitae Periodic Fever Syndromes Panel
Use
The Invitae Periodic Fever Syndromes Panel analyzes genes associated with inherited periodic fever syndromes, which include conditions like familial Mediterranean fever and familial cold autoinflammatory syndromes. These disorders are characterized by symptoms such as periodic fevers, skin rash, joint pain, and potentially severe complications like kidney failure. Early diagnosis can aid in managing symptoms and preventing complications.
Special Instructions
This panel uses next-generation sequencing technology to provide full-gene sequencing and deletion/duplication analysis, ensuring high analytical sensitivity and specificity for detecting variants.
Limitations
This test may not detect certain structural rearrangements or variants in complex sequence architectures. Variants outside the targeted regions, such as promoter and non-coding regions, are generally not analyzed. Additionally, some single-exon copy number events may not be assessed due to sequence properties or data quality issues.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)