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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.

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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 PMM2 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 TBX1 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



Gene Disorder Protein name Protein symbol
ACD AD/AR-DKC due to TPP1 deficiency telomere protein TPP1 TPP1
ACP5 Spondyloenchondro-dysplasia with immune dysregulation tartrate-resistant acid phosphatase TRAP
ACTB β-actin deficiency beta-actin ACTB
ADA Adenosine deaminase (ADA) deficiency adenosine deaminase ADA
ADA2 ADA2 deficiency cat eye syndrome chromosome region, candidate 1 CECR1
ADAM17 ADAM17 deletion tumor necrosis factor-alpha converting enzyme TACE
ADAR ADAR1 deficiency, Aicardi-Goutieres syndrome 6 RNA-specific adenosine deaminase ADAR
AICDA AID deficiency activation-induced cytidine deaminase AID
AIRE APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy autoimmune regulator AIRE
AK2 Reticular dysgenesis, AK2 deficiency adenylate kinase-2 AK2
AP3B1 Hermansky-Pudlak syndrome, type 2 adaptor-related protein complex-3, B1 subunit AP3B1
ATM Ataxia-telangiectasia ataxia-telangiectasia mutated ATM
B2M MHC class I deficiency Beta-2-microglobulin B2M
BCL10 BCL10 deficiency B cell CLL / lymphoma 10 protein BCL10
BLNK BLNK deficiency B-cell linker protein BLNK
BLOC1S6 Hermansky-Pudlak syndrome, type 9 palladin PLDN
BTK BTK deficiency Bruton agammaglobulinemia tyrosine kinase BTK
CARD11 CARD11 deficiency, CARD11 gain of function caspase recruitment domain-containing protein 11 CARD11
CARD14 CAMPS (CARD14 mediated psoriasis) caspase recruitment domain-containing protein 14 CARD14
CARD9 CARD9 deficiency caspase recruitment domain-containing protein 14 CARD9
CASP10 ALPS-Caspase 10 caspase-10 CASP10
CASP8 ALPS IIb, caspase 8 deficiency caspase-8 CASP8
CD247 CD3ζ deficiency CD3-zeta CD3-zeta
CD27 CD27 deficiency CD27 antigen CD27
CD3D CD3δ deficiency CD3-delta CD3-delta
CD3E CD3ε deficiency CD3-epsilon CD3-epsilon
CD3G CD3γ deficiency CD3-gamma CD3-gamma
CD40LG CD40 ligand deficiency CD40 ligand CD40LG
CD79A Igα deficiency immunoglobulin-associated alpha Ig-alpha
CD79B Igβ deficiency immunoglobulin-associated beta Ig-beta
CD8A CD8 deficiency CD8-alpha chain CD8
CEBPE Specific granule deficiency C/EBP-epsilon C/EBP
CHD7 CHARGE syndrome chromodomain helicase DNA-binding protein 7 CHD7
CIITA MHC class II deficiency MHC class II transactivator CIITA
CLPB 3-Methylglutaconic aciduria caseinolytic peptidase B CLPB
COPA COPA defect, autoimmune interstitial lung, joint, and kidney disease (AILJK) Coatamer protein complex, subunit alpha COPA
CORO1A Coronin-1A deficiency coronin-1A CORO1A
CR2 CD21 deficiency CD21 CD21
CSF2RA Pulmonary alveolar proteinosis granulocyte/macrophage colony-stimulating factor GMCSF
CSF3R G-CSF receptor deficiency granulocyte colony-stimulating factor receptor CSF3R
CTC1 AR-DKC due to CTC1 deficiency conserved telomere maintenance component 1 CTC1
CTLA4 CTLA4 deficiency (ALPSV) Cytotoxic T Lymphocyte antigen 4 CTLA4
CTPS1 CTPS1 deficiency CTP synthase CTPS1
CTSC Papillon-Lefèvre Syndrome cathepsin C CTSC
CXCR4 WHIM (warts, hypogammaglo- bulinemia, infections, myelokathexis) syndrome Chemokine, CXC motif, receptor 4 CXCR4
CYBA Autosomal recessive CGD 22kD-phagocyte oxidase p22-phox
CYBB X-linked chronic granulomatous disease (CGD) 91kD-phagocyte oxidase p91-phox
DCLRE1B AR-DKC due to DCLRE1B deficiency Apollo SNM1; apollo
DCLRE1C DCLRE1C (Artemis) deficiency Artemis Artemis
DKC1 XL-DKC due to Dyskerin deficiency dyskerin DKC1
DNMT3B Immunodeficiency with centromeric instability and facial anomalies (ICF1) DNA methyltransferase 3B DNMT3B
DOCK2 DOCK2 deficiency dedicator of cytokinesis 2 DOCK2
DOCK8 DOCK8 deficiency dedicator of cytokinesis 8 DOCK8
ELANE Elastase deficiency (SCN1), cyclic neutropenia elastase ELANE
EPG5 Vici syndrome due to EPG5 deficiency ectopic P-granules autophagy protein 5 EPG5
FADD FADD deficiency FAS-associating protein with death domain FADD
FAS ALPS-FAS FAS antigen FAS; CD95
FASLG ALPS-FASLG FAS ligand; CD95 ligand; FASLG
FERMT3 Leukocyte adhesion deficiency type 3 KINDLIN3 KINDLIN3
FOXN1 Winged helix deficiency (nude) AAB: syndromic SCID forkhead box N1 transcription factor FOXN1; nude
FOXP3 IPEX, immune dysregulation, polyendocrinopathy, enteropathy X-linked forkhead box p3 FOXP3
FPR1 Localized juvenile periodontitis Formylated peptide receptor FPR1
G6PC3 G6PC3 deficiency (SCN4) glucose-6-phosphatase beta G6PC3
GATA2 GATA2 deficiency GATA-binding protein 2 GATA2
GFI1 GFI 1 deficiency (SCN2) growth factor-independent 1 GFI1
HAX1 Kostmann Disease (SCN3) HCLS1-associated protein X1 HAX1
ICOS ICOS deficiency inducible T-cell costimulator ICOS
IFIH1 Aicardi-Goutieres syndrome 7 interferon-induced helicase domain-containing protein 1 IFIH1
IFNGR1 IFN-γ receptor 1 deficiency interferon-gamma receptor 1 IFN-gamma R1
IFNGR2 IFN-γ receptor 2 deficiency interferon-gamma receptor 2 IFN-gamma R2
IGLL1 λ5 deficiency lambda-5 IGL5
IKBKB IKBKB deficiency I-kappa-B kinase 2 IKK2
IL10 IL-10 deficiency interleukin-10 IL-10
IL10RA IL-10Rα deficiency interleukin-10 receptor alpha IL-10R1
IL10RB IL-10Rβ deficiency interleukin-10 receptor beta IL-10R2
IL12B IL-12p40 deficiency interleukin-12 p40 subunit IL-12p40
IL12RB1 IL-12 and IL-23 receptor β1 chain deficiency interleukin-12 and interleukin-23 receptor beta1 chain IL-12 and IL-23 receptor β1 chain
IL17F IL-17F deficiency interleukin-17F IL-17F
IL17RA IL-17RA deficiency interleukin-17 receptor alpha IL-17RA
IL17RC IL-17RC deficiency interleukin-17 receptor like protein IL-17RC
IL1RN IL1RN interleukin 1 receptor antagonist deficiency (DIRA) IL-1RN
IL21 IL-21 deficiency IL-21 deficiency IL-21
IL21R IL-21R deficiency interleukin-21 receptor IL-21R
IL2RA CD25 deficiency CD25 CD25
IL2RG γc deficiency interleukin receptor common gamma chain gamma-c
IL36RN DITRA – Deficiency of IL-36 receptor antagonist interleukin-36 receptor antagonist IL-36RN
IL7R IL7Rα deficiency interleukin 7 receptor alpha IL-7RA
IRAK4 IRAK-4 deficiency interleukin-1 receptor-associated kinase 4 IRAK-4
IRF7 IRF7 deficiency interferon regulatory factor 7 IRF7
IRF8 IRF8 deficiency interferon regulatory factor 8 IRF8
ISG15 ISG15 deficiency ubiquitin-like modifier ISG15 ISG15
ITCH ITCH deficiency ITCHY E3 ubiquitin protein ligase ITCH
ITGB2 Leukocyte adhesion deficiency type 1 integrin beta 2 ITGB2
ITK lymphoproliferative syndrome type 1 (LPFS1) interleukin 2 inducible T-cell kinase ITK
JAGN1 JAGN1 deficiency homolog of drosophila jagunal 1 JAGN1
JAK3 JAK3 deficiency Janus activating kinase 3 JAK3
LAMTOR2 P14/LAMTOR2 deficiency p14 P14
LCK LCK deficiency lymphocyte-specific protein-tyrosine kinase p56(LCK)
LIG4 DNA ligase IV deficiency DNA ligase IV LIG4
LPIN2 Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome) lipin 2 LIPIN2
LRBA LRBA deficiency lipopolysaccharide responsive beige-like anchor protein LRBA
LYST Chediak-Higashi syndrome lysosomal trafficking regulator LYST
MAGT1 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) magnesium transporter 1 MAGT1
MALT1 MALT1 deficiency mucosa-associated lymphoid tissue lymphoma translocation gene 1 MALT1
MAP3K14 NIK deficiency NF-kB-inducing kinase NIK
MEFV Familial Mediterranean Fever pyrin PYRIN
MOGS MOGS deficiency mannosyl-oligosaccharide glucosidase MOGS
MVK Mevalonate kinase deficiency mevalonate kinase MVK
MYD88 MyD88 deficiency myeloid differentiation (MyD) marker 88 MYD88
NBN Nijmegen breakage syndrome nibrin NIBRIN
NCF2 Autosomal recessive CGD 67kD-phagocyte oxidase p67-phox
NCF4 Autosomal recessive CGD 40kD-phagocyte oxidase p40-phox
NFAT5 NFAT5 haploinsufficiency tonicity-responsive enhancer-binding protein TONEBP
NFKB2 NFKB2 deficiency NF-kappa-B, subunit 2 NFKB2
NFKBIA Anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID), IKBA gain I-kappa-B-alpha IKBA
NHEJ1 Cernunnos/XLF deficiency Cernunnos Cernunnos
NHP2 AR-DKC due to nucleolar protein family A member 2 (NHP2) deficiency nucleolar protein family A member 2 NOLA2
NLRC4 NLRC4-MAS (macrophage activating syndrome), Familial cold autoinflammatory syndrome 4 NLR family, CARD containing 4 NLRC4
NLRP12 Familial cold autoinflammatory syndrome 2 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 12 NALP12
NLRP3 Muckle-Wells syndrome, Familial cold autoinflammatory syndrome 1, Neonatal onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous and articular syndrome (CINCA) cryopyrin cryopyrin
NOD2 Blau syndrome caspase recruitment domain-containing protein 15 CARD15
NOP10 AR-DKC due to nucleolar protein family A member 3 (NHP3) or NOP10 deficiency nucleolar protein family A member 3 NOLA3
ORAI1 ORAI-I deficiency calcium release-activated calcium modulator 1 ORAI1
PARN AR-DKC due to PARN deficiency polyadenylate-specific ribonuclease PARN
PGM3 PGM3 deficiency phosphoglucomutase 3 PGM3
PIK3CD Activated PI3K-δ p110-delta protein p110-delta
PIK3R1 PI3KR1 deficiency, PI3KR1 loss of function p85-alpha protein p85-alpha
PLCG2 PLAID (PLCγ2 associated antibody deficiency and immune dysregulation), Familial cold autoinflammatory syndrome 3, APLAID (autoinflammation and PLCγ2 associated antibody deficiency and immune dysregulation) phospholipase C gamma 2 PLCG2
PMM2 PMM2-congenital disorder of glycosylation (CDG-Ia) Phosphomannomutase PMM2
PNP Purine nucleoside phosphorylase (PNP) deficiency purine nucleoside phosphorylase PNP
POLE FILS syndrome DNA polymerase epsilon POLE
PRF1 Perforin deficiency (FHL2) perforin perforin
PRKCD PRKC delta deficiency protein kinase C delta PRKCD
PRKDC DNA PKcs deficiency DNA-PKcs DNA-PKcs
PSMB8 CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy) proteasome subunit, beta-type 8 PSMB8
PSTPIP1 Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome CD2 antigen-binding protein 1 C2BP1
PTPRC CD45 deficiency CD45 CD45
RAB27A Griscelli syndrome, type 2 ras-associated protein RAB27A RAB27A
RAC2 Rac 2 deficiency rho family small GTP-binding protein RAC2 RAC2
RAG1 RAG 1 deficiency recombinase activating gene 1 RAG1
RAG2 RAG 2 deficiency recombinase activating gene 2 RAG2
RBCK1 Polyglucosan body myopathy, early-onset, with or without immunodeficiency (PBMEI) heme-oxidized IRP2 ubiquitin ligase 1 HOIL1
RFX5 MHC class II deficiency group C regulatory factor X5 RFX5
RFXANK MHC class II deficiency group B regulatory factor X, ankyrin repeat-containing RFXANK
RFXAP MHC class II deficiency group D regulatory factor X associated protein RFXAP
RHOH RhoH deficiency ras homolog gene family member H RHOH
RMRP Cartilage hair hypoplasia Mitochondrial RNA-processing endoribonuclease (RNase MRP) RNA RNase MRP (RNA)
RNASEH2A RNASEH2A deficiency, Aicardi-Goutieres syndrome 4 ribonuclease H2 subunit A RNASEH2A
RNASEH2B RNASEH2B deficiency, Aicardi-Goutieres syndrome 2 ribonuclease H2 subunit B RNASEH2B
RNASEH2C RNASEH2C deficiency, Aicardi-Goutieres syndrome 3 ribonuclease H2 subunit C RNASEH2C
RORC RORc deficiency rar-related orphan receptor C RORC
RTEL1 AR-DKC due to regulator of telomere elongation (RTEL1) deficiency regulator of telomere elongation helicase 1 RTEL1
SAMHD1 SAMHD1 deficiency, Aicardi-Goutieres syndrome 5 SAM domain and HD domain containing protein 1 SAMHD1
SEMA3E CHARGE syndrome semaphorin 3E SEMA3E
SH2D1A SH2D1A deficiency (XLP1) SH2 domain protein 1A SH2D1A
SH3BP2 Cherubism SH3 domain binding protein 2 SH3BP2
SLC29A3 SLC29A3 mutation equilibrative nucleoside transporter 3 SLC29A3
SLC35C1 Leukocyte adhesion deficiency type 2 GDP-fucose transporter 1 SLC35C1
SLC37A4 Glycogen storage disease type 1b glucose-6-phosphate transporter 1 G6PT1
SLC7A7 lysinuric protein intolerance cationic amino acid transporter 1 SLC7A7
SMARCAL1 Schimke Immunoosseous Dysplasia SMARCA like protein 1 SMARCAL1
SP110 Hepatic veno-occlusive disease with immunodeficiency speckled 110 kDa SP110
SPINK5 Comel-Netherton syndrome lymphoepithelial kazal type related inhibitor LEKT1
STAT1 STAT1 deficiency signal transducer and activator of transcription 1 STAT1
STAT2 STAT2 deficiency signal transducer and activator of transcription 2 STAT2
STAT3 AD-HIES (Job or Buckley Syndrome), STAT3 GOF mutations signal transducer and activator of transcription 3 STAT3
STAT5B STAT5b deficiency signal transducer and activator of transcription 5b STAT5B
STIM1 STIM1 deficiency stromal interaction molecule 1 STIM1
STK4 MST1 deficiency mammalian sterile 20-like 1 MST1
STX11 Syntaxin 11 deficiency, (FHL4) syntaxin 11 STX11
STXBP2 STXBP2 / Munc18-2 deficiency (FHL5) munc18-2 MUNC18-2
TAP1 MHC class I deficiency ABC transporter MHC 1 TAP1
TAP2 MHC class I deficiency ABC transporter MHC 2 TAP2
TAPBP MHC class I deficiency tapasin TPSN
TBX1 DiGeorge syndrome T-box 1 TBX1
TAZ Barth syndrome tafazzin TAZ
TBX1 TBK1 deficiency NF kappa B activating kinase NAK
TCN2 Transcobalamin 2 deficiency transcobalamin 2 TCN2
TERC AD-DKC due to TERC deficiency telomerase RNA component TERC
TERT AD-DKC due to TERT deficiency telomerase reverse transcriptase TERT
TICAM1 TRIF deficiency TIR-domain containing adaptor inducing interferon beta TRIF
TINF2 AD-DKC due to TINF2 deficiency telomerase interacting factor 2 TINF2
TLR3 TLR3 deficiency Toll-like receptor 3 TLR3
TMC6 EVER1 deficiency EVER1 EVER1
TMC8 EVER2 deficiency EVER2 EVER2
TMEM173 STING–associated vasculopathy, infantile onset stimulator of interferon genes STING
TNFRSF13B TACI deficiency transmembrane activator and CAML interactor TACI
TNFRSF13C BAFF receptor deficiency BAFF receptor BAFFR
TNFRSF1A TNF receptor-associated periodic syndrome (TRAPS) tumor necrosis factor receptor 1 TNFR1
TNFRSF4 OX40 deficiency OX40 antigen OX40
TNFSF12 TWEAK deficiency TNF-related weak inducer of apoptosis TWEAK
TPP2 Tripeptidyl-Peptidase II Deficiency tripeptidyl peptidase II TPP2
TRAF3 TRAF3 deficiency CD40 binding protein CD40BP
TRAF3IP2 ACT1 deficiency nuclear factor kappa-b activator 1 ACT1
TREX1 TREX1 deficiency, Aicardi-Goutieres syndrome   3-prime repair exonuclease 1 TREX1
TRNT1 TRNT1 deficiency tRNA nucleotidyltransferase, CCA-adding 1 TRNT1
TTC7A Immunodeficiency with multiple intestinal atresias tetratricopeptide repeat (TPR) domain containing protein 7A TTC7A
TYK2 Tyk2 deficiency tyrosine kinase 2 TYK2
UNC13D UNC13D / Munc13-4 deficiency (FHL3) munc13-4 MUNC13-4
UNC93B1 UNC93B1 deficiency UNC93, C. elegans homolog of B1 UNC93B1
UNG UNG deficiency uracil-DNA glycosylase UNG
VPS13B Cohen syndrome vacuolar protein sorting 13 homolog B COH1
VPS45 VPS45 deficiency (SCN5) vaculolar protein sorting 45 VPS45
WAS Wiskott-Aldrich syndrome, X-linked neutropenia/ myelodysplasia WAS protein WASP
WIPF1 WIP deficiency WASP-interacting protein WIP
XIAP XIAP deficiency (XLP2) baculoviral IAP-repeat containing protein 4 BIRC4
ZAP70 ZAP-70 deficiency protein tyrosine kinase ZAP70 ZAP70
ZBTB24 Immunodeficiency with centromeric instability and facial anomalies (ICF2) zinc finger and BTB-domain containing protein 24 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.

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
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
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
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
PLCG2 NM_002661.4
PMM2 NM_000303.2
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_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
TAP1 NM_000593.5
TAP2 NM_000544.3
TAPBP NM_003190.4
TAZ NM_000116.4
TBX1 NM_080647.1
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
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.