Invitae Familial Mediterranean Fever Test
Use
The Invitae Familial Mediterranean Fever Test analyzes the MEFV gene, which is the only gene known to cause familial Mediterranean fever (FMF). This test is useful for individuals suspected of having FMF based on clinical symptoms, lab findings, or family history. FMF is characterized by recurrent fever and serosal inflammation without infection, and it's the most frequent monogenic autoinflammatory disorder. It can lead to complications like renal amyloidosis if untreated.
Special Instructions
This test includes full-gene sequencing and deletion/duplication analysis using NGS technology. It covers clinically important regions, including coding exons and adjacent intronic sequences. Please contact client services for questions regarding test limits, and note that some variant types may not be detected.
Limitations
Analysis excludes sequence changes in non-coding regions unless specified. Detection of large insertions/deletions may be reduced. Certain variant types, such as structural rearrangements or in complex sequences, may not be detected. Variants like mosaicism or phasing might not be resolved. The test may not represent the patient's true genome in rare scenarios like recent transplants or transfusions.
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
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)