Test Directory

ACP5, ADA2, ADAM17, ADAR, ALPK1, C2orf69, CARD14, CDC42, CEBPE, COPA, DNASE1L3, DNASE2, ELANE, ELF4, HAVCR2, HCK, IFIH1, IKBKG, IL1RN, IL36RN, LPIN2, LSM11, MEFV, MVK, NCKAP1L, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, OTULIN, PLCG2, POLA1, POMP, PSMA3, PSMB4, PSMB8, PSMB9, PSMB10, PSMG2, PSTPIP1, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1, SAMHD1, SH3BP2, SLC29A3, STAT2, STING1, SYK, TBK1, TNFAIP3, TNFRSF1A and TREX1.

This test is used for diagnostic testing for periodic fever syndromes.

1. Collect a pale-yellow top (ACD-A) tube via venipuncture.

1. Transport 4 mL of whole blood in the original collection container.

For saliva collections:  Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

Transport to the laboratory at room temperature.

• Hemolysis

 See patient report.

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations, including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.