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  • Test code: 08100
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Invitae Primary Immunodeficiency Panel

Test description

The Invitae Primary Immunodeficiency Panel analyzes 207 genes that are associated with inherited disorders of the immune system. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for primary immunodeficiencies (PIDs).

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives as well as provide accurate risk assessment and carrier status for at -risk relatives.

*TBK1: Individuals under the age of 18 should undergo comprehensive pre-test genetic counseling before considering genetic testing for the TBK1 gene, which, along with having preliminary evidence for an association with autosomal dominant herpes simplex encephalitis, is also associated with autosomal dominant frontotemporal dementia and amyotrophic lateral sclerosis, progressive neurodegenerative conditions with an age of onset which ranges from the 50s to late 70s. For more information on genetic testing in minors, please refer to the ASHG position statement: http://www.cell.com/ajhg/abstract/S0002-9297(15)00236-0.

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Primary panel (207 genes)

ACD ACP5 ACTB ADA ADA2 ADAM17 ADAR AICDA AIRE AK2 AP3B1 ATM B2M BCL10 BLNK BLOC1S6 BTK CARD11 CARD14 CARD9 CASP10 CASP8 CD247 CD27 CD3D CD3E CD3G CD40LG CD79A CD79B CD8A CEBPE CHD7 CIITA CLPB COPA CORO1A CR2 CSF2RA CSF3R CTC1 CTLA4 CTPS1 CTSC CXCR4 CYBA CYBB DCLRE1B DCLRE1C DKC1 DNMT3B DOCK2 DOCK8 ELANE EPG5 FADD FAS FASLG FERMT3 FOXN1 FOXP3 FPR1 G6PC3 GATA2 GFI1 HAX1 ICOS IFIH1 IFNGR1 IFNGR2 IGLL1 IKBKB IL10 IL10RA IL10RB IL12B IL12RB1 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL2RA IL2RG IL36RN IL7R IRAK4 IRF7 IRF8 ISG15 ITCH ITGB2 ITK JAGN1 JAK3 LAMTOR2 LCK LIG4 LPIN2 LRBA LYST MAGT1 MALT1 MAP3K14 MEFV MOGS MVK MYD88 NBN NCF2 NCF4 NFAT5 NFKB2 NFKBIA NHEJ1 NHP2 NLRC4 NLRP12 NLRP3 NOD2 NOP10 ORAI1 PARN PGM3 PIK3CD PIK3R1 PLCG2 PMS2 PNP POLE PRF1 PRKCD PRKDC PSMB8 PSTPIP1 PTPRC RAB27A RAC2 RAG1 RAG2 RBCK1 RFX5 RFXANK RFXAP RHOH RMRP RNASEH2A RNASEH2B RNASEH2C RORC RTEL1 SAMHD1 SEMA3E SH2D1A SH3BP2 SLC29A3 SLC35C1 SLC37A4 SLC7A7 SMARCAL1 SP110 SPINK5 STAT1 STAT2 STAT3 STAT5B STIM1 STK4 STX11 STXBP2 TAP1 TAP2 TAPBP TAZ TBK1 TCN2 TERC TERT TICAM1 TINF2 TLR3 TMC6 TMC8 TMEM173 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFSF12 TPP2 TRAF3 TRAF3IP2 TREX1 TRNT1 TTC7A TYK2 UNC13D UNC93B1 UNG VPS13B VPS45 WAS WIPF1 XIAP ZAP70 ZBTB24

  • Antibody deficiencies
    • Agamma/hypogammaglobulinemia
    • Common variable immunodeficiency (CVID)
    • Hyper IgE syndrome
    • Hyper IgM syndrome
  • Autoinflammatory syndromes
    • Periodic fever syndromes
    • Inflammatory bowel disease
    • Familial cold autoinflammatory syndrome
    • Familial Mediterranean Fever
  • Combined T/B cell deficiencies
    • Severe combined immunodeficiency (SCID)
    • Combined immunodeficiency less profound than SCID
    • Syndromic conditions
  • Disorders of immune dysregulation
    • Monogenic autoimmunity
    • Autoimmune lymphoproliferative syndrome (ALPS)
    • Familial Hemophagocytic Lymphohistiocytosis (HLH)
    • Type I interferonopathies
  • Disorders of intrinsic and innate immunity
    • Epidermodysplasia verruciformis
    • Familial candidiasis
    • Herpes simplex encephalitis
    • Mendelian Susceptibility to Mycobacterial infections
  • Phagocytic defects
    • Chronic granulomatous disease (CGD)**
    • Leukocyte adhesion deficiency
  • Telomere instability syndrome/Dyskeratosis congenita

**Please note this panel does not include the NCF1 gene, which is responsible for 25% of CGD. This panel does not cover the complement deficiencies or phenocopies of PID that are caused by somatic mutations.

Primary immunodeficiencies are group of mendelian inherited disorders that result in defects which affect one or more parts of the immune system. These disorders can range from severe to mild and can present from the neonatal period to adulthood. Common features can include frequent infections which may be more severe, even life threatening, and harder to manage than expected, autoimmunity, bouts of inflammation without an infectious etiology, lymphoproliferation, lung disease, among others. Some of these disorders have treatments and early diagnosis may be critical to improve long term outcomes.

The clinical sensitivity for this test is unknown. PIDs are clinically and genetically heterogeneous, and the percentage of patients with PIDs and a pathogenic variant(s) in one of the genes offered in this panel has not been determined.

Primary immunodeficiencies can be inherited in several patterns, including autosomal dominant, autosomal recessive, and X-linked.

Individually, the PIDs are rare disorders, but when they are considered collectively, the prevalence of PIDs may be as common as 1 in 1,200 persons.

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, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACD NM_001082486.1
ACP5 NM_001111035.2
ACTB NM_001101.3
ADA NM_000022.2
ADA2 NM_001282225.1
ADAM17 NM_003183.5
ADAR NM_001111.4
AICDA NM_020661.2
AIRE NM_000383.3
AK2 NM_001625.3; NM_013411.4
AP3B1 NM_003664.4
ATM NM_000051.3
B2M NM_004048.2
BCL10 NM_003921.4
BLNK NM_013314.3
BLOC1S6 NM_012388.3
BTK NM_000061.2
CARD11 NM_032415.5
CARD14 NM_024110.4
CARD9 NM_052813.4
CASP10 NM_032977.3
CASP8 NM_001228.4
CD247 NM_198053.2
CD27 NM_001242.4
CD3D NM_000732.4
CD3E NM_000733.3
CD3G NM_000073.2
CD40LG NM_000074.2
CD79A NM_001783.3
CD79B NM_000626.3
CD8A NM_001768.6
CEBPE NM_001805.3
CHD7 NM_017780.3
CIITA NM_000246.3
CLPB NM_030813.5
COPA NM_004371.3
CORO1A* NM_007074.3
CR2 NM_001006658.2
CSF2RA* NM_006140.4
CSF3R NM_000760.3
CTC1 NM_025099.5
CTLA4 NM_005214.4
CTPS1 NM_001905.3
CTSC NM_001814.5
CXCR4 NM_003467.2; NM_001008540.1
CYBA NM_000101.3
CYBB NM_000397.3
DCLRE1B NM_022836.3
DCLRE1C NM_001033855.2
DKC1 NM_001363.4
DNMT3B NM_006892.3
DOCK2 NM_004946.2
DOCK8 NM_203447.3
ELANE NM_001972.2
EPG5 NM_020964.2
FADD NM_003824.3
FAS NM_000043.5
FASLG NM_000639.2
FERMT3 NM_031471.5
FOXN1 NM_003593.2
FOXP3 NM_014009.3
FPR1 NM_002029.3
G6PC3 NM_138387.3
GATA2 NM_032638.4
GFI1 NM_005263.3
HAX1 NM_006118.3
ICOS NM_012092.3
IFIH1 NM_022168.3
IFNGR1 NM_000416.2
IFNGR2 NM_005534.3
IGLL1 NM_020070.3
IKBKB NM_001556.2
IL10 NM_000572.2
IL10RA NM_001558.3
IL10RB NM_000628.4
IL12B NM_002187.2
IL12RB1 NM_005535.2
IL17F NM_052872.3
IL17RA NM_014339.6
IL17RC NM_153461.3
IL1RN NM_173841.2
IL21 NM_021803.3
IL21R NM_021798.3
IL2RA NM_000417.2
IL2RG NM_000206.2
IL36RN NM_012275.2
IL7R NM_002185.3
IRAK4 NM_016123.3
IRF7 NM_004031.2
IRF8 NM_002163.2
ISG15 NM_005101.3
ITCH NM_031483.6
ITGB2 NM_000211.4
ITK NM_005546.3
JAGN1 NM_032492.3
JAK3 NM_000215.3
LAMTOR2 NM_014017.3
LCK NM_001042771.2
LIG4 NM_002312.3
LPIN2 NM_014646.2
LRBA NM_006726.4
LYST NM_000081.3
MAGT1 NM_032121.5
MALT1 NM_006785.3
MAP3K14 NM_003954.4
MEFV NM_000243.2
MOGS NM_006302.2
MVK NM_000431.3
MYD88 NM_002468.4
NBN NM_002485.4
NCF2 NM_000433.3
NCF4 NM_013416.3
NFAT5 NM_138714.3
NFKB2 NM_001077494.3
NFKBIA NM_020529.2
NHEJ1 NM_024782.2
NHP2 NM_017838.3
NLRC4 NM_021209.4
NLRP12 NM_144687.3
NLRP3 NM_004895.4
NOD2 NM_022162.2
NOP10 NM_018648.3
ORAI1 NM_032790.3
PARN NM_002582.3
PGM3 NM_001199917.1
PIK3CD NM_005026.3
PIK3R1 NM_181523.2; NM_181504.3
PLCG2 NM_002661.4
PMS2 NM_000535.5
PNP NM_000270.3
POLE NM_006231.3
PRF1 NM_001083116.1
PRKCD NM_006254.3
PRKDC NM_006904.6
PSMB8 NM_148919.3
PSTPIP1 NM_003978.3
PTPRC NM_002838.4
RAB27A NM_004580.4
RAC2 NM_002872.4
RAG1 NM_000448.2
RAG2 NM_000536.3
RBCK1 NM_031229.3
RFX5 NM_000449.3
RFXANK NM_003721.3
RFXAP NM_000538.3
RHOH NM_004310.4
RMRP NR_003051.3
RNASEH2A NM_006397.2
RNASEH2B NM_024570.3
RNASEH2C NM_032193.3
RORC NM_005060.3
RTEL1 NM_032957.4; NM_001283009.1
SAMHD1 NM_015474.3
SEMA3E NM_012431.2
SH2D1A NM_002351.4
SH3BP2 NM_003023.4
SLC29A3 NM_018344.5
SLC35C1 NM_018389.4
SLC37A4 NM_001164277.1
SLC7A7 NM_001126106.2
SMARCAL1 NM_014140.3
SP110 NM_004509.3
SPINK5 NM_006846.3
STAT1 NM_007315.3
STAT2 NM_005419.3
STAT3 NM_139276.2
STAT5B NM_012448.3
STIM1 NM_003156.3
STK4 NM_006282.3
STX11 NM_003764.3
STXBP2 NM_006949.3; NM_001272034.1
TAP1 NM_000593.5
TAP2 NM_000544.3
TAPBP NM_003190.4
TAZ NM_000116.4
TBK1 NM_013254.3
TCN2 NM_000355.3
TERC NR_001566.1
TERT NM_198253.2
TICAM1 NM_182919.3
TINF2 NM_001099274.1
TLR3 NM_003265.2
TMC6 NM_007267.7
TMC8 NM_152468.4
TMEM173 NM_198282.3
TNFRSF13B NM_012452.2
TNFRSF13C NM_052945.3
TNFRSF1A NM_001065.3
TNFRSF4 NM_003327.3
TNFSF12 NM_003809.2
TPP2 NM_003291.2
TRAF3 NM_003300.3
TRAF3IP2 NM_147686.3
TREX1 NM_033629.4; NM_016381.4
TRNT1 NM_182916.2
TTC7A NM_020458.3
TYK2 NM_003331.4
UNC13D NM_199242.2
UNC93B1 NM_030930.3
UNG NM_080911.2
VPS13B NM_017890.4
VPS45 NM_007259.4
WAS NM_000377.2
WIPF1 NM_001077269.1
XIAP NM_001167.3
ZAP70 NM_001079.3
ZBTB24 NM_014797.2

CORO1A: Deletion/duplication and sequencing analysis is not offered for exon 11 (NM_007074.3).
CSF2RA: Deletion/duplication analysis is not offered for this gene.