Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoinflammatory syndromes and related disorders
Establishing a diagnosis of autoinflammatory disease, and in some cases guiding management and allowing for surveillance of disease features
Identification of pathogenic variants within genes known to be associated with autoinflammatory disorders allowing for predictive testing of at-risk family members
This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.
This test uses next-generation sequencing to test for variants in the CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3 (CIAS1), NOD2 (CARD15), PLCG2, PSMB8, PSTPIP1 (CD2BP1), RBCK1 (HOIL1), SH3BP2, and TNFRSF1A genes.
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
Test ID | Reporting Name | Available Separately | Always Performed |
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FIBR | Fibroblast Culture | Yes | No |
CRYOB | Cryopreserve for Biochem Studies | No | No |
For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing