Autoinflammatory Disorders Gene Panel, Varies

Casandra

Casandra Test Code MC40545Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID AUTOGCPT Code 81443

Autoinflammatory Disorders Gene Panel, Varies

Clinical Use

Use

This test is useful for providing a comprehensive genetic evaluation for patients with symptoms suggestive of inherited autoinflammatory disorders. It aids in establishing a diagnosis of monogenic autoinflammatory disorder, enabling appropriate management and surveillance based on the gene or variant involved. Additionally, it helps in identifying variants within genes associated with autoinflammatory disorders, facilitating predictive testing for at-risk family members.

Special Instructions

Customization of the panel and single gene analysis for any gene present on this panel are available. Targeted testing for familial variants is also available. Patients with a prior bone marrow transplant should not undergo testing with blood, bone marrow, or saliva specimens due to potential for donor DNA contamination. For more information on customization and testing options, contact Mayo Clinic Laboratories.

Limitations

Next-generation sequencing may not detect all genomic variants. False negatives or positives can occur. There are regions of genes that may not be effectively evaluated due to technical limitations such as homology or high GC content. Negative results do not exclude the presence of a genetic disorder. This test cannot effectively differentiate between somatic mutations and germline variants if mosaicism is suspected. If a patient has had a stem cell transplant, results may be inaccurate due to donor DNA presence.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

This NGS panel detects single nucleotide and copy number variants in 117 genes associated with autoinflammatory disorders, aiding diagnosis and management of these genetic conditions.

Mutation (117 genes)

ACP5ADAADA2ADAM17ADARAIREALPIAP3B1AP3D1ARPC1BASAH1C1QAC1QBC1QCC1RC1SC2CARD11CARD14CASP10CASP8CD3GCD40LGCD48CD55CDC42COPACTLA4DDX58DNASE1DNASE1L3DNASE2DOCK8FADDFOXP3GATA2HAVCR2ICOSIFIH1IKBKGIL10IL10RAIL10RBIL1RNIL2RAIL2RBIL2RGIL36RNISG15ITCHITGB2ITKJAK1LACC1LIG4LPIN2LRBALSM11LYNLYSTMEFVMVKNLRC4NLRP1NLRP12NLRP3NOD2OAS1OTULINPIK3CDPIK3R1PLCG2POLA1POMPPRF1PRKCDPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1RAB27ARBCK1RIPK1RNASEH2ARNASEH2BRNASEH2CRNF31RNU7-1SAMD9LSAMHD1SH2D1ASH3BP2SKIV2LSLC29A3SLC37A4STAT1STAT2STAT3STIM1STING1STX11STXBP2TLR7TNFAIP3TNFRSF1ATPP2TREX1TRNT1UNC13DUSP18WASWDR1XIAPZAP70