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  • Test code: 08120
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Test description

The Invitae Autoinflammatory and Autoimmunity Syndromes Panel analyzes genes that are associated with autoinflammatory and autoimmune conditions. Autoinflammatory disorders are characterized by episodic inflammation due to inappropriate activation of the innate immune response whereas autoimmune disorders are caused by defects in adaptive immunity leading to loss of self-tolerance. Autoimmune and autoinflammatory diseases share clinical manifestations including self-directed inflammation in the absence of a known trigger.

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Primary panel (155 genes)

ACP5 ADA ADA2 ADAM17 ADAR AICDA AIRE ANKZF1 AP3B1 ARPC1B ASAH1 BACH2 BLOC1S6 BTK C17orf62 CARD14 CARD8 CASP10 CASP8 CCBE1 CD27 CD3G CD40 CD40LG COPA CR2 CTLA4 CYBA CYBB DCLRE1C DDX58 DEF6 DKC1 DNASE1L3 DNASE2 DOCK8 DSG1 DUOX2 ELANE FADD FAS FASLG FCHO1 FOXP3 G6PC3 ICOS IFIH1 IL10 IL10RA IL10RB IL1RN IL21 IL21R IL2RA IL2RB IL2RG IL36RN IRF2BP2 ITCH ITGAM ITGB2 ITK JAK1 LIG4 LPIN2 LRBA LYN LYST MAGT1 MEFV MVK NCF2 NCF4 NFAT5 NFKB1 NFKB2 NFKBIA NLRC4 NLRP1 NLRP12 NLRP3 NOD2 OAS1 ORAI1 OTULIN PEPD PIK3CD PIK3R1 PLCG2 PNP POLA1 POMP PRF1 PRKCD PSMA3 PSMB4 PSMB8 PSMG2 PSTPIP1 RAB27A RAC2 RAG1 RAG2 RASGRP1 RBCK1 RFX5 RFXANK RFXAP RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF31 RTEL1 SAMHD1 SCO2 SH2D1A SH3BP2 SI SIAE SKIV2L SLC29A3 SLC37A4 SLC7A7 STAT1 STAT3 STAT4 STAT5B STIM1 STX11 STXBP2 TBX1 TGFB1 TGFBR1 TGFBR2 TMEM173 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF6B TNFSF12 TOP2B TPP2 TREX1 TRNT1 TTC7A UNC13D UNG WAS XIAP ZAP70 ZNF341

Add-on Autoimmunity Genes (37 genes)

Generally, autoinflammatory disorders are characterized by episodic inflammation due to inappropriate activation of the innate immune response whereas autoimmune disorders are caused by defects in adaptive immunity leading to loss of self-tolerance. Autoimmune and autoinflammatory diseases share clinical manifestations and cross-over between these disease groups has been recognized (PMID: 24164192). Both types of conditions result in self-directed inflammation in the absence of a known trigger, and recent studies suggest considerable overlap in molecular pathways involved in both groups of conditions (PMID: 29099860). Genes associated with autoimmune disorders can be added to this panel at no additional charge.

AIRE AP3B1 BLOC1S6 CASP10 CASP8 CD27 CR2 FADD FAS FASLG IL21R ITCH ITK LYST MAGT1 NFKB2 NFKBIA ORAI1 PNP PRF1 PRKCD RAB27A RAC2 RFX5 RFXANK RFXAP RMRP SLC7A7 STAT5B STX11 TBX1 TNFRSF13B TNFRSF13C TNFSF12 TPP2 UNC13D UNG

Alternative tests to consider

  • monogenic autoinflammatory syndromes
  • monogenic autoimmunity
  • periodic fever syndromes
  • familial cold autoinflammatory syndromes
  • familial Mediterranean fever
  • monogenic inflammatory bowel disease

To view the complete clinical description of this panel, click here.

Conditions on this panel can occur in several inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACP5 NM_001111035.2
ADA NM_000022.2
ADA2 NM_001282225.1
ADAM17 NM_003183.5
ADAR NM_001111.4
AICDA NM_020661.2
AIRE NM_000383.3
ANKZF1 NM_018089.2
AP3B1 NM_003664.4
ARPC1B NM_005720.3
ASAH1 NM_177924.3
BACH2 NM_021813.3
BLOC1S6 NM_012388.3
BTK NM_000061.2
C17orf62 NM_001033046.3
CARD14 NM_024110.4
CARD8 NM_014959.3
CASP10 NM_032977.3
CASP8 NM_001228.4
CCBE1 NM_133459.3
CD27 NM_001242.4
CD3G NM_000073.2
CD40 NM_001250.5
CD40LG NM_000074.2
COPA NM_004371.3
CR2 NM_001006658.2
CTLA4 NM_005214.4
CYBA NM_000101.3
CYBB NM_000397.3
DCLRE1C NM_001033855.2
DDX58 NM_014314.3
DEF6 NM_022047.3
DKC1 NM_001363.4
DNASE1L3 NM_004944.3
DNASE2 NM_001375.2
DOCK8 NM_203447.3
DSG1 NM_001942.3
DUOX2* NM_014080.4
ELANE NM_001972.2
FADD NM_003824.3
FAS NM_000043.5
FASLG NM_000639.2
FCHO1 NM_001161357.1
FOXP3 NM_014009.3
G6PC3 NM_138387.3
ICOS NM_012092.3
IFIH1 NM_022168.3
IL10 NM_000572.2
IL10RA NM_001558.3
IL10RB NM_000628.4
IL1RN NM_173841.2
IL21 NM_021803.3
IL21R NM_021798.3
IL2RA NM_000417.2
IL2RB NM_000878.3
IL2RG NM_000206.2
IL36RN NM_012275.2
IRF2BP2 NM_182972.2
ITCH NM_031483.6
ITGAM NM_000632.3
ITGB2 NM_000211.4
ITK NM_005546.3
JAK1 NM_002227.3
LIG4 NM_002312.3
LPIN2 NM_014646.2
LRBA NM_006726.4
LYN NM_002350.3
LYST NM_000081.3
MAGT1 NM_032121.5
MEFV NM_000243.2
MVK NM_000431.3
NCF2 NM_000433.3
NCF4 NM_013416.3
NFAT5 NM_138714.3
NFKB1 NM_003998.3
NFKB2 NM_001077494.3
NFKBIA NM_020529.2
NLRC4 NM_021209.4
NLRP1 NM_033004.3
NLRP12 NM_144687.3
NLRP3 NM_004895.4
NOD2 NM_022162.2
OAS1 NM_016816.3
ORAI1 NM_032790.3
OTULIN NM_138348.4
PEPD NM_000285.3
PIK3CD NM_005026.3
PIK3R1 NM_181523.2
PLCG2 NM_002661.4
PNP NM_000270.3
POLA1 NM_016937.3
POMP NM_015932.5
PRF1 NM_001083116.1
PRKCD NM_006254.3
PSMA3 NM_002788.3
PSMB4 NM_002796.2
PSMB8 NM_148919.3
PSMG2 NM_020232.4
PSTPIP1 NM_003978.3
RAB27A NM_004580.4
RAC2 NM_002872.4
RAG1 NM_000448.2
RAG2 NM_000536.3
RASGRP1 NM_005739.3
RBCK1 NM_031229.3
RFX5 NM_000449.3
RFXANK NM_003721.3
RFXAP NM_000538.3
RIPK1 NM_003804.4
RMRP NR_003051.3
RNASEH2A NM_006397.2
RNASEH2B NM_024570.3
RNASEH2C NM_032193.3
RNF31 NM_017999.4
RTEL1 NM_001283009.1
SAMHD1 NM_015474.3
SCO2 NM_005138.2
SH2D1A NM_002351.4
SH3BP2 NM_003023.4
SI* NM_001041.3
SIAE NM_170601.4
SKIV2L NM_006929.4
SLC29A3 NM_018344.5
SLC37A4 NM_001164277.1
SLC7A7 NM_001126106.2
STAT1 NM_007315.3
STAT3 NM_139276.2
STAT4 NM_003151.3
STAT5B* NM_012448.3
STIM1 NM_003156.3
STX11 NM_003764.3
STXBP2 NM_006949.3
TBX1 NM_080647.1
TGFB1 NM_000660.5
TGFBR1 NM_004612.2
TGFBR2 NM_003242.5
TMEM173 NM_198282.3
TNFAIP3 NM_006290.3
TNFRSF11A NM_003839.3
TNFRSF13B NM_012452.2
TNFRSF13C NM_052945.3
TNFRSF1A NM_001065.3
TNFRSF6B NM_003823.3
TNFSF12 NM_003809.2
TOP2B NM_001068.3
TPP2 NM_003291.2
TREX1 NM_033629.4
TRNT1 NM_182916.2
TTC7A NM_020458.3
UNC13D NM_199242.2
UNG NM_080911.2
WAS NM_000377.2
XIAP NM_001167.3
ZAP70 NM_001079.3
ZNF341 NM_032819.4

DUOX2: Deletion/duplication and sequencing analysis is not offered for exons 6-7.
SI: Deletion/duplication analysis is not offered for exon 7.
STAT5B: Deletion/duplication and sequencing analysis is not offered for exons 7-8.