Invitae Primary Immunodeficiency Panel
Test description
The Invitae Primary Immunodeficiency Panel analyzes genes that are associated with inherited disorders of the immune system. These genes were selected based on the available evidence to date and comprise Invitae’s broadest test for primary immunodeficiencies (PIDs).
Genes tested
Primary panel
ACD ACP5 ACTB ADA ADA2 ADAM17 ADAR AICDA AIRE AK2 ALG6 ANGPT1 ANKZF1 AP3B1 AP3D1 ARHGEF1 ARPC1B ASAH1 ATM ATP6AP1 B2M BACH2 BCL10 BCL11B BLM BLNK BLOC1S3 BLOC1S6 BTK C17orf62 C1QA C1QB C1QC C1S C2 C3 C5 C6 C7 C8A C8B C9 CARD11 CARD14 CARD8 CARD9 CARMIL2 CASP10 CASP8 CBL CCBE1 CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD46 CD55 CD59 CD79A CD79B CD81 CD8A CDC42 CDCA7 CEBPE CFB CFD CFH CFI CFP CHD7 CIB1 CIITA CLCN7 CLPB COL7A1 COPA CORO1A CR2 CSF2RA CSF2RB CSF3R CTC1 CTLA4 CTPS1 CTSC CXCR2 CXCR4 CYBA CYBB CYP27A1 DCLRE1C DDX58 DEF6 DGAT1 DIAPH1 DKC1 DNAJC21 DNASE1L3 DNASE2 DNMT3B DOCK2 DOCK8 DSG1 DTNBP1 DUOX2 EFL1 EIF2AK3 ELANE EPG5 ERBIN ERCC2 ERCC3 ERCC6L2 EXTL3 FADD FANCA FANCB FANCE FANCF FANCI FANCL FAS FASLG FAT4 FCHO1 FERMT1 FERMT3 FOXI3 FOXN1 FOXP3 FPR1 G6PC G6PC3 G6PD GATA2 GFI1 GINS1 GTF2E2 GTF2H5 GUCY2C HAX1 HELLS HMOX1 HPS1 HPS3 HPS4 HPS5 HPS6 HTRA2 HYOU1 ICOS ICOSLG IFIH1 IFNAR1 IFNAR2 IFNGR1 IFNGR2 IGLL1 IKBKB IL10 IL10RA IL10RB IL12B IL12RB1 IL12RB2 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL6R IL6ST IL7R IRAK4 IRF2BP2 IRF4 IRF7 IRF8 IRF9 ISG15 ITCH ITGAM ITGB2 ITK JAGN1 JAK1 JAK3 KDM6A KMT2A KMT2D LAMTOR2 LAT LCK LCT LIG1 LIG4 LIPA LPIN2 LRBA LRRC8A LYN LYST MAGT1 MALT1 MAP3K14 MCM4 MEFV MKL1 MOGS MPLKIP MS4A1 MSN MTHFD1 MVK MYD88 MYO5B MYSM1 NBAS NBN NCF2 NCF4 NCSTN NEUROG3 NFAT5 NFE2L2 NFKB1 NFKB2 NFKBIA NHEJ1 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NSMCE3 OAS1 ORAI1 OSTM1 OTULIN PARN PAX1 PEPD PGM3 PIK3CD PIK3R1 PLCG2 PMM2 PNP POLA1 POLD1 POLE POLE2 POLR3A POMP PRF1 PRKCD PRKDC PSENEN PSMA3 PSMB4 PSMB8 PSMG2 PSTPIP1 PTPRC RAB27A RAC2 RAG1 RAG2 RANBP2 RASGRP1 RBCK1 RELA RELB RFX5 RFXANK RFXAP RHOH RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF31 RNU4ATAC RORC RPSA RTEL1 SAMD9 SAMD9L SAMHD1 SAR1B SCO2 SEC61A1 SEMA3E SERPING1 SH2D1A SH3BP2 SH3KBP1 SI SIAE SKIV2L SLC26A3 SLC29A3 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SLC5A1 SLC7A7 SLC9A3 SLX4 SMARCAL1 SMARCD2 SNX10 SP110 SPINK5 SPINT2 SPPL2A SRP54 SRP72 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STK4 STN1 STX11 STX3 STXBP2 TAOK2 TAP1 TAP2 TAPBP TAZ TBX1 TCF3 TCIRG1 TCN2 TERC TERT TFRC TGFB1 TGFBR1 TGFBR2 THBD TICAM1 TIMM50 TINF2 TLR3 TMC6 TMC8 TMEM173 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFRSF6B TNFRSF9 TNFSF11 TNFSF12 TONSL TOP2B TP63 TPP2 TRAF3 TRAF3IP2 TREX1 TRNT1 TTC37 TTC7A TYK2 UNC13D UNC45A UNC93B1 UNG USB1 VAV1 VPS13B VPS45 WAS WDR1 WIPF1 WRAP53 XIAP ZAP70 ZBTB24 ZCCHC8 ZNF341
Add-On Primary Ciliary Dyskinesia and Cystic Fibrosis Genes
AK7 ARMC4 C11orf70 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CEP164 CFAP298 CFTR DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 LRRC56 LRRC6 MCIDAS NOTCH2 OFD1 PIH1D3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 ZMYND10
The Invitae Add-On Primary Ciliary Dyskinesia and Cystic Fibrosis Panel analyzes genes which are associated with primary ciliary dyskinesia and cystic fibrosis. These disorders result in respiratory disease, which can include respiratory tract infections, neonatal respiratory distress, and/or other lung-related complications. Severe or recurrent respiratory infections at an early age may mimic the symptoms of a primary immunodeficiency disorder. Additional manifestations of these disorders may include situs inversus or heterotaxy, abnormal sperm motility, or congenital absence of the vas deferens (resulting in male infertility).
Add-On Cancer Predisposition Genes
MSH6 PMS2 PTEN
This optional Add-On panel includes three genes associated with primary immunodeficiencies, which also cause adult-onset cancer predisposition syndromes. This panel may be appropriate to add to the Primary Immunodeficiency Panel for patients with a strong suspicion of constitutional mismatch repair deficiency syndrome or PTEN hamartoma tumor syndrome and who have been informed of the chance of identifying an adult-onset cancer predisposition syndrome by testing these genes.
Order test
Primary panel (407 genes)
Customized gene selection (0 included, 0 excluded)
ACD ACP5 ACTB ADA ADA2 ADAM17 ADAR AICDA AIRE AK2 ALG6 ANGPT1 ANKZF1 AP3B1 AP3D1 ARHGEF1 ARPC1B ASAH1 ATM ATP6AP1 B2M BACH2 BCL10 BCL11B BLM BLNK BLOC1S3 BLOC1S6 BTK C17orf62 C1QA C1QB C1QC C1S C2 C3 C5 C6 C7 C8A C8B C9 CARD11 CARD14 CARD8 CARD9 CARMIL2 CASP10 CASP8 CBL CCBE1 CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD46 CD55 CD59 CD79A CD79B CD81 CD8A CDC42 CDCA7 CEBPE CFB CFD CFH CFI CFP CHD7 CIB1 CIITA CLCN7 CLPB COL7A1 COPA CORO1A CR2 CSF2RA CSF2RB CSF3R CTC1 CTLA4 CTPS1 CTSC CXCR2 CXCR4 CYBA CYBB CYP27A1 DCLRE1C DDX58 DEF6 DGAT1 DIAPH1 DKC1 DNAJC21 DNASE1L3 DNASE2 DNMT3B DOCK2 DOCK8 DSG1 DTNBP1 DUOX2 EFL1 EIF2AK3 ELANE EPG5 ERBIN ERCC2 ERCC3 ERCC6L2 EXTL3 FADD FANCA FANCB FANCE FANCF FANCI FANCL FAS FASLG FAT4 FCHO1 FERMT1 FERMT3 FOXI3 FOXN1 FOXP3 FPR1 G6PC G6PC3 G6PD GATA2 GFI1 GINS1 GTF2E2 GTF2H5 GUCY2C HAX1 HELLS HMOX1 HPS1 HPS3 HPS4 HPS5 HPS6 HTRA2 HYOU1 ICOS ICOSLG IFIH1 IFNAR1 IFNAR2 IFNGR1 IFNGR2 IGLL1 IKBKB IL10 IL10RA IL10RB IL12B IL12RB1 IL12RB2 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL6R IL6ST IL7R IRAK4 IRF2BP2 IRF4 IRF7 IRF8 IRF9 ISG15 ITCH ITGAM ITGB2 ITK JAGN1 JAK1 JAK3 KDM6A KMT2A KMT2D LAMTOR2 LAT LCK LCT LIG1 LIG4 LIPA LPIN2 LRBA LRRC8A LYN LYST MAGT1 MALT1 MAP3K14 MCM4 MEFV MKL1 MOGS MPLKIP MS4A1 MSN MTHFD1 MVK MYD88 MYO5B MYSM1 NBAS NBN NCF2 NCF4 NCSTN NEUROG3 NFAT5 NFE2L2 NFKB1 NFKB2 NFKBIA NHEJ1 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NSMCE3 OAS1 ORAI1 OSTM1 OTULIN PARN PAX1 PEPD PGM3 PIK3CD PIK3R1 PLCG2 PMM2 PNP POLA1 POLD1 POLE POLE2 POLR3A POMP PRF1 PRKCD PRKDC PSENEN PSMA3 PSMB4 PSMB8 PSMG2 PSTPIP1 PTPRC RAB27A RAC2 RAG1 RAG2 RANBP2 RASGRP1 RBCK1 RELA RELB RFX5 RFXANK RFXAP RHOH RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF31 RNU4ATAC RORC RPSA RTEL1 SAMD9 SAMD9L SAMHD1 SAR1B SCO2 SEC61A1 SEMA3E SERPING1 SH2D1A SH3BP2 SH3KBP1 SI SIAE SKIV2L SLC26A3 SLC29A3 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SLC5A1 SLC7A7 SLC9A3 SLX4 SMARCAL1 SMARCD2 SNX10 SP110 SPINK5 SPINT2 SPPL2A SRP54 SRP72 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STK4 STN1 STX11 STX3 STXBP2 TAOK2 TAP1 TAP2 TAPBP TAZ TBX1 TCF3 TCIRG1 TCN2 TERC TERT TFRC TGFB1 TGFBR1 TGFBR2 THBD TICAM1 TIMM50 TINF2 TLR3 TMC6 TMC8 TMEM173 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFRSF6B TNFRSF9 TNFSF11 TNFSF12 TONSL TOP2B TP63 TPP2 TRAF3 TRAF3IP2 TREX1 TRNT1 TTC37 TTC7A TYK2 UNC13D UNC45A UNC93B1 UNG USB1 VAV1 VPS13B VPS45 WAS WDR1 WIPF1 WRAP53 XIAP ZAP70 ZBTB24 ZCCHC8 ZNF341
Add-On Primary Ciliary Dyskinesia and Cystic Fibrosis Genes (42 genes)
Customized gene selection (0 included, 0 excluded)
The Invitae Add-On Primary Ciliary Dyskinesia and Cystic Fibrosis Panel analyzes genes which are associated with primary ciliary dyskinesia and cystic fibrosis. These disorders result in respiratory disease, which can include respiratory tract infections, neonatal respiratory distress, and/or other lung-related complications. Severe or recurrent respiratory infections at an early age may mimic the symptoms of a primary immunodeficiency disorder. Additional manifestations of these disorders may include situs inversus or heterotaxy, abnormal sperm motility, or congenital absence of the vas deferens (resulting in male infertility).
AK7 ARMC4 C11orf70 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CEP164 CFAP298 CFTR DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 LRRC56 LRRC6 MCIDAS NOTCH2 OFD1 PIH1D3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 ZMYND10
Add-On Cancer Predisposition Genes (3 genes)
Customized gene selection (0 included, 0 excluded)
This optional Add-On panel includes three genes associated with primary immunodeficiencies, which also cause adult-onset cancer predisposition syndromes. This panel may be appropriate to add to the Primary Immunodeficiency Panel for patients with a strong suspicion of constitutional mismatch repair deficiency syndrome or PTEN hamartoma tumor syndrome and who have been informed of the chance of identifying an adult-onset cancer predisposition syndrome by testing these genes.
MSH6 PMS2 PTEN
Clinical information
Disorders tested
- severe combined immunodeficiency
- combined immunodeficiency
- major histocompatibility complex class I and II deficiencies
- combined immunodeficiency with syndromic features
- dyskeratosis congenita
- agammaglobulinemia and hypogammaglobulinemia
- hyper IgM syndrome
- hyper IgE syndrome, including Netherton syndrome
- monogenic common variable immune deficiency
- chronic mucocutaneous candidiasis
- herpes simplex encephalitis
- epidermodysplasia verruciformis
- WHIM syndrome
- Mendelian susceptibility to mycobacterial infections
- autoimmune lymphoproliferative syndrome
- familial hemophagocytic lymphohistiocytosis and related disorders
- Hermansky-Pudlak syndrome
- congenital neutropenia
- chronic granulomatous disease
- leukocyte adhesion deficiency
- pulmonary alveolar proteinosis
- immunodeficiency- centromeric instability- facial anomalies syndrome
- complement deficiencies
- monogenic congential diarrhea
- monogenic autoinflammatory syndromes
- monogenic autoimmunity
- periodic fever syndromes
- familial cold autoinflammatory syndromes
- familial Mediterranean fever
- monogenic inflammatory bowel disease
- activated PI3K-delta syndrome
Clinical description
To view the complete clinical description of this panel, click here.
Inheritance
Primary Immunodeficiencies can occur in several inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked.
Assay
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 |
|---|---|---|---|
| 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 | ||
| AK7 | NM_152327.3 | ||
| ALG6 | NM_013339.3 | ||
| ANGPT1 | NM_001146.4 | ||
| ANKZF1 | NM_018089.2 | ||
| AP3B1 | NM_003664.4 | ||
| AP3D1 | NM_001261826.1 | ||
| ARHGEF1 | NM_199002.1 | ||
| ARMC4* | NM_018076.2 | ||
| ARPC1B | NM_005720.3 | ||
| ASAH1 | NM_177924.3 | ||
| ATM* | NM_000051.3 | ||
| ATP6AP1 | NM_001183.5 | ||
| B2M | NM_004048.2 | ||
| BACH2 | NM_021813.3 | ||
| BCL10 | NM_003921.4 | ||
| BCL11B | NM_138576.3 | ||
| BLM | NM_000057.3 | ||
| BLNK | NM_013314.3 | ||
| BLOC1S3 | NM_212550.4 | ||
| BLOC1S6 | NM_012388.3 | ||
| BTK | NM_000061.2 | ||
| C11orf70 | NM_032930.2 | ||
| C17orf62 | NM_001033046.3 | ||
| C1QA | NM_015991.2 | ||
| C1QB | NM_000491.3 | ||
| C1QC | NM_172369.3 | ||
| C1S | NM_201442.2 | ||
| C2 | NM_000063.5 | ||
| C3 | NM_000064.3 | ||
| C5 | NM_001735.2 | ||
| C6 | NM_000065.3 | ||
| C7 | NM_000587.2 | ||
| C8A | NM_000562.2 | ||
| C8B | NM_000066.3 | ||
| C9 | NM_001737.4 | ||
| CARD11 | NM_032415.5 | ||
| CARD14 | NM_024110.4 | ||
| CARD8 | NM_014959.3 | ||
| CARD9 | NM_052813.4 | ||
| CARMIL2 | NM_001013838.1 | ||
| CASP10 | NM_032977.3 | ||
| CASP8 | NM_001228.4 | ||
| CBL | NM_005188.3 | ||
| CCBE1 | NM_133459.3 | ||
| CCDC103 | NM_213607.2 | ||
| CCDC114 | NM_144577.3 | ||
| CCDC151 | NM_145045.4 | ||
| CCDC39 | NM_181426.1 | ||
| CCDC40 | NM_017950.3 | ||
| CCDC65 | NM_033124.4 | ||
| CCNO | NM_021147.4 | ||
| CD19 | NM_001770.5 | ||
| CD247 | NM_198053.2 | ||
| CD27 | NM_001242.4 | ||
| CD3D | NM_000732.4 | ||
| CD3E | NM_000733.3 | ||
| CD3G | NM_000073.2 | ||
| CD40 | NM_001250.5 | ||
| CD40LG | NM_000074.2 | ||
| CD46 | NM_002389.4 | ||
| CD55 | NM_000574.4 | ||
| CD59 | NM_203330.2 | ||
| CD79A | NM_001783.3 | ||
| CD79B | NM_000626.3 | ||
| CD81 | NM_004356.3 | ||
| CD8A | NM_001768.6 | ||
| CDC42 | NM_001791.3 | ||
| CDCA7 | NM_031942.4 | ||
| CEBPE | NM_001805.3 | ||
| CEP164 | NM_014956.4 | ||
| CFAP298 | NM_021254.2 | ||
| CFB | NM_001710.5 | ||
| CFD | NM_001928.3 | ||
| CFH* | NM_000186.3 | ||
| CFI | NM_000204.4 | ||
| CFP | NM_002621.2 | ||
| CFTR* | NM_000492.3 | ||
| CHD7 | NM_017780.3 | ||
| CIB1 | NM_001277764.1 | ||
| CIITA | NM_000246.3 | ||
| CLCN7 | NM_001287.5 | ||
| CLPB | NM_030813.5 | ||
| COL7A1 | NM_000094.3 | ||
| COPA | NM_004371.3 | ||
| CORO1A* | NM_007074.3 | ||
| CR2 | NM_001006658.2 | ||
| CSF2RA* | NM_006140.4 | ||
| CSF2RB | NM_000395.2 | ||
| CSF3R | NM_000760.3 | ||
| CTC1 | NM_025099.5 | ||
| CTLA4 | NM_005214.4 | ||
| CTPS1 | NM_001905.3 | ||
| CTSC | NM_001814.5 | ||
| CXCR2 | NM_001557.3 | ||
| CXCR4 | NM_003467.2 | ||
| CYBA | NM_000101.3 | ||
| CYBB | NM_000397.3 | ||
| CYP27A1 | NM_000784.3 | ||
| DCLRE1C | NM_001033855.2 | ||
| DDX58 | NM_014314.3 | ||
| DEF6 | NM_022047.3 | ||
| DGAT1 | NM_012079.5 | ||
| DIAPH1 | NM_005219.4 | ||
| DKC1 | NM_001363.4 | ||
| DNAAF1 | NM_178452.4 | ||
| DNAAF2 | NM_018139.2 | ||
| DNAAF3 | NM_001256714.1 | ||
| DNAAF4 | NM_130810.3 | ||
| DNAAF5 | NM_017802.3 | ||
| DNAH1 | NM_015512.4 | ||
| DNAH11 | NM_001277115.1 | ||
| DNAH5 | NM_001369.2 | ||
| DNAH8 | NM_001206927.1 | ||
| DNAH9 | NM_001372.3 | ||
| DNAI1 | NM_012144.3; NM_001281428.1 | ||
| DNAI2 | NM_023036.4 | ||
| DNAJB13 | NM_153614.3 | ||
| DNAJC21 | NM_001012339.2 | ||
| DNAL1 | NM_031427.3 | ||
| DNASE1L3 | NM_004944.3 | ||
| DNASE2 | NM_001375.2 | ||
| DNMT3B | NM_006892.3 | ||
| DOCK2 | NM_004946.2 | ||
| DOCK8 | NM_203447.3 | ||
| DRC1 | NM_145038.3 | ||
| DSG1 | NM_001942.3 | ||
| DTNBP1 | NM_032122.4 | ||
| DUOX2* | NM_014080.4 | ||
| EFL1* | NM_024580.5 | ||
| EIF2AK3 | NM_004836.6 | ||
| ELANE | NM_001972.2 | ||
| EPG5 | NM_020964.2 | ||
| ERBIN | NM_001253697.1 | ||
| ERCC2 | NM_000400.3 | ||
| ERCC3 | NM_000122.1 | ||
| ERCC6L2 | NM_020207.4 | ||
| EXTL3 | NM_001440.3 | ||
| FADD | NM_003824.3 | ||
| FANCA | NM_000135.2 | ||
| FANCB | NM_001018113.1 | ||
| FANCE | NM_021922.2 | ||
| FANCF | NM_022725.3 | ||
| FANCI | NM_001113378.1 | ||
| FANCL* | NM_018062.3 | ||
| FAS | NM_000043.5 | ||
| FASLG | NM_000639.2 | ||
| FAT4 | NM_024582.4 | ||
| FCHO1 | NM_001161357.1 | ||
| FERMT1 | NM_017671.4 | ||
| FERMT3 | NM_031471.5 | ||
| FOXI3 | NM_001135649.2 | ||
| FOXN1 | NM_003593.2 | ||
| FOXP3 | NM_014009.3 | ||
| FPR1 | NM_002029.3 | ||
| G6PC | NM_000151.3 | ||
| G6PC3 | NM_138387.3 | ||
| G6PD | NM_001042351.2 | ||
| GAS8 | NM_001481.2 | ||
| GATA2 | NM_032638.4 | ||
| GFI1 | NM_005263.3 | ||
| GINS1 | NM_021067.4 | ||
| GTF2E2 | NM_002095.4 | ||
| GTF2H5 | NM_207118.2 | ||
| GUCY2C | NM_004963.3 | ||
| HAX1 | NM_006118.3 | ||
| HELLS | NM_018063.4 | ||
| HMOX1 | NM_002133.2 | ||
| HPS1 | NM_000195.4 | ||
| HPS3 | NM_032383.4 | ||
| HPS4 | NM_022081.5 | ||
| HPS5 | NM_181507.1 | ||
| HPS6 | NM_024747.5 | ||
| HTRA2 | NM_013247.4 | ||
| HYOU1 | NM_006389.4 | ||
| ICOS | NM_012092.3 | ||
| ICOSLG | NM_015259.5 | ||
| IFIH1 | NM_022168.3 | ||
| IFNAR1 | NM_000629.2 | ||
| IFNAR2 | NM_207585.2 | ||
| 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 | ||
| IL12RB2 | NM_001559.2 | ||
| IL17F | NM_052872.3 | ||
| IL17RA | NM_014339.6 | ||
| IL17RC | NM_153461.3 | ||
| IL1RN | NM_173841.2 | ||
| IL21 | NM_021803.3 | ||
| IL21R | NM_021798.3 | ||
| IL23R | NM_144701.2 | ||
| IL2RA | NM_000417.2 | ||
| IL2RB | NM_000878.3 | ||
| IL2RG | NM_000206.2 | ||
| IL36RN | NM_012275.2 | ||
| IL6R | NM_000565.3 | ||
| IL6ST | NM_002184.3 | ||
| IL7R | NM_002185.3 | ||
| IRAK4 | NM_016123.3 | ||
| IRF2BP2 | NM_182972.2 | ||
| IRF4 | NM_002460.3 | ||
| IRF7 | NM_004031.2 | ||
| IRF8 | NM_002163.2 | ||
| IRF9 | NM_006084.4 | ||
| ISG15 | NM_005101.3 | ||
| ITCH | NM_031483.6 | ||
| ITGAM | NM_000632.3 | ||
| ITGB2 | NM_000211.4 | ||
| ITK | NM_005546.3 | ||
| JAGN1 | NM_032492.3 | ||
| JAK1 | NM_002227.3 | ||
| JAK3 | NM_000215.3 | ||
| KDM6A | NM_021140.3 | ||
| KMT2A | NM_001197104.1 | ||
| KMT2D | NM_003482.3 | ||
| LAMTOR2 | NM_014017.3 | ||
| LAT | NM_001014987.1 | ||
| LCK | NM_001042771.2 | ||
| LCT | NM_002299.3 | ||
| LIG1 | NM_000234.2 | ||
| LIG4 | NM_002312.3 | ||
| LIPA | NM_000235.3 | ||
| LPIN2 | NM_014646.2 | ||
| LRBA | NM_006726.4 | ||
| LRRC56 | NM_198075.3 | ||
| LRRC6 | NM_012472.4 | ||
| LRRC8A | NM_019594.3 | ||
| LYN | NM_002350.3 | ||
| LYST | NM_000081.3 | ||
| MAGT1 | NM_032121.5 | ||
| MALT1 | NM_006785.3 | ||
| MAP3K14 | NM_003954.4 | ||
| MCIDAS | NM_001190787.1 | ||
| MCM4 | NM_005914.3 | ||
| MEFV | NM_000243.2 | ||
| MKL1 | NM_020831.4 | ||
| MOGS | NM_006302.2 | ||
| MPLKIP | NM_138701.3 | ||
| MS4A1 | NM_152866.2 | ||
| MSH6* | NM_000179.2 | ||
| MSN | NM_002444.2 | ||
| MTHFD1 | NM_005956.3 | ||
| MVK | NM_000431.3 | ||
| MYD88 | NM_002468.4 | ||
| MYO5B | NM_001080467.2 | ||
| MYSM1 | NM_001085487.2 | ||
| NBAS | NM_015909.3 | ||
| NBN | NM_002485.4 | ||
| NCF2 | NM_000433.3 | ||
| NCF4 | NM_013416.3 | ||
| NCSTN | NM_015331.2 | ||
| NEUROG3 | NM_020999.3 | ||
| NFAT5 | NM_138714.3 | ||
| NFE2L2 | NM_006164.4 | ||
| NFKB1 | NM_003998.3 | ||
| NFKB2 | NM_001077494.3 | ||
| NFKBIA | NM_020529.2 | ||
| NHEJ1 | NM_024782.2 | ||
| NHP2 | NM_017838.3 | ||
| NLRC4 | NM_021209.4 | ||
| NLRP1 | NM_033004.3 | ||
| NLRP12 | NM_144687.3 | ||
| NLRP3 | NM_004895.4 | ||
| NOD2 | NM_022162.2 | ||
| NOP10 | NM_018648.3 | ||
| NOTCH2* | NM_024408.3 | ||
| NSMCE3 | NM_138704.3 | ||
| OAS1 | NM_016816.3 | ||
| OFD1 | NM_003611.2 | ||
| ORAI1 | NM_032790.3 | ||
| OSTM1 | NM_014028.3 | ||
| OTULIN | NM_138348.4 | ||
| PARN | NM_002582.3 | ||
| PAX1 | NM_006192.4 | ||
| PEPD | NM_000285.3 | ||
| PGM3 | NM_001199917.1 | ||
| PIH1D3 | NM_001169154.1 | ||
| PIK3CD | NM_005026.3 | ||
| PIK3R1 | NM_181523.2 | ||
| PLCG2 | NM_002661.4 | ||
| PMM2 | NM_000303.2 | ||
| PMS2* | NM_000535.5 | ||
| PNP | NM_000270.3 | ||
| POLA1 | NM_016937.3 | ||
| POLD1* | NM_002691.3 | ||
| POLE | NM_006231.3 | ||
| POLE2 | NM_002692.3 | ||
| POLR3A | NM_007055.3 | ||
| POMP | NM_015932.5 | ||
| PRF1 | NM_001083116.1 | ||
| PRKCD | NM_006254.3 | ||
| PRKDC | NM_006904.6 | ||
| PSENEN | NM_172341.2 | ||
| PSMA3 | NM_002788.3 | ||
| PSMB4 | NM_002796.2 | ||
| PSMB8 | NM_148919.3 | ||
| PSMG2 | NM_020232.4 | ||
| PSTPIP1 | NM_003978.3 | ||
| PTEN* | NM_000314.4 | ||
| PTPRC* | NM_002838.4 | ||
| RAB27A | NM_004580.4 | ||
| RAC2 | NM_002872.4 | ||
| RAG1 | NM_000448.2 | ||
| RAG2 | NM_000536.3 | ||
| RANBP2* | NM_006267.4 | ||
| RASGRP1 | NM_005739.3 | ||
| RBCK1 | NM_031229.3 | ||
| RELA | NM_021975.3 | ||
| RELB | NM_006509.3 | ||
| RFX5 | NM_000449.3 | ||
| RFXANK | NM_003721.3 | ||
| RFXAP | NM_000538.3 | ||
| RHOH | NM_004310.4 | ||
| RIPK1 | NM_003804.4 | ||
| RMRP | NR_003051.3 | ||
| RNASEH2A | NM_006397.2 | ||
| RNASEH2B | NM_024570.3 | ||
| RNASEH2C | NM_032193.3 | ||
| RNF113A | NM_006978.2 | ||
| RNF168 | NM_152617.3 | ||
| RNF31 | NM_017999.4 | ||
| RNU4ATAC | NR_023343.1 | ||
| RORC | NM_005060.3 | ||
| RPGR* | NM_000328.2 | ||
| RPSA | NM_002295.5 | ||
| RSPH1 | NM_080860.3 | ||
| RSPH3 | NM_031924.4 | ||
| RSPH4A | NM_001010892.2 | ||
| RSPH9 | NM_152732.4 | ||
| RTEL1 | NM_001283009.1 | ||
| SAMD9 | NM_017654.3 | ||
| SAMD9L | NM_152703.4 | ||
| SAMHD1 | NM_015474.3 | ||
| SAR1B* | NM_001033503.2 | ||
| SCO2 | NM_005138.2 | ||
| SEC61A1 | NM_013336.3 | ||
| SEMA3E | NM_012431.2 | ||
| SERPING1 | NM_000062.2 | ||
| SH2D1A | NM_002351.4 | ||
| SH3BP2 | NM_003023.4 | ||
| SH3KBP1 | NM_031892.2 | ||
| SI* | NM_001041.3 | ||
| SIAE | NM_170601.4 | ||
| SKIV2L | NM_006929.4 | ||
| SLC26A3 | NM_000111.2 | ||
| SLC29A3 | NM_018344.5 | ||
| SLC35C1 | NM_018389.4 | ||
| SLC37A4 | NM_001164277.1 | ||
| SLC39A7 | NM_001077516.1 | ||
| SLC46A1 | NM_080669.5 | ||
| SLC5A1 | NM_000343.3 | ||
| SLC7A7 | NM_001126106.2 | ||
| SLC9A3* | NM_004174.3 | ||
| SLX4 | NM_032444.2 | ||
| SMARCAL1 | NM_014140.3 | ||
| SMARCD2 | NM_001098426.1 | ||
| SNX10 | NM_001199835.1 | ||
| SP110 | NM_004509.3 | ||
| SPAG1 | NM_172218.2 | ||
| SPINK5 | NM_006846.3 | ||
| SPINT2 | NM_021102.3 | ||
| SPPL2A | NM_032802.3 | ||
| SRP54 | NM_003136.3 | ||
| SRP72 | NM_006947.3 | ||
| STAT1 | NM_007315.3 | ||
| STAT2 | NM_005419.3 | ||
| STAT3 | NM_139276.2 | ||
| STAT4 | NM_003151.3 | ||
| STAT5B* | NM_012448.3 | ||
| STIM1 | NM_003156.3 | ||
| STK4 | NM_006282.3 | ||
| STN1 | NM_024928.4 | ||
| STX11 | NM_003764.3 | ||
| STX3 | NM_004177.4 | ||
| STXBP2 | NM_006949.3 | ||
| TAOK2 | NM_016151.3 | ||
| TAP1 | NM_000593.5 | ||
| TAP2 | NM_000544.3 | ||
| TAPBP | NM_003190.4 | ||
| TAZ | NM_000116.4 | ||
| TBX1 | NM_080647.1 | ||
| TCF3 | NM_003200.4; NM_001136139.3 | ||
| TCIRG1 | NM_006019.3 | ||
| TCN2 | NM_000355.3 | ||
| TERC | NR_001566.1 | ||
| TERT | NM_198253.2 | ||
| TFRC | NM_003234.3 | ||
| TGFB1 | NM_000660.5 | ||
| TGFBR1 | NM_004612.2 | ||
| TGFBR2 | NM_003242.5 | ||
| THBD | NM_000361.2 | ||
| TICAM1 | NM_182919.3 | ||
| TIMM50 | NM_001001563.3 | ||
| TINF2 | NM_001099274.1 | ||
| TLR3 | NM_003265.2 | ||
| TMC6 | NM_007267.7 | ||
| TMC8 | NM_152468.4 | ||
| TMEM173 | NM_198282.3 | ||
| TNFAIP3 | NM_006290.3 | ||
| TNFRSF11A | NM_003839.3 | ||
| TNFRSF13B | NM_012452.2 | ||
| TNFRSF13C | NM_052945.3 | ||
| TNFRSF1A | NM_001065.3 | ||
| TNFRSF4 | NM_003327.3 | ||
| TNFRSF6B | NM_003823.3 | ||
| TNFRSF9 | NM_001561.5 | ||
| TNFSF11 | NM_003701.3 | ||
| TNFSF12 | NM_003809.2 | ||
| TONSL | NM_013432.4 | ||
| TOP2B* | NM_001068.3 | ||
| TP63 | NM_003722.4 | ||
| TPP2 | NM_003291.2 | ||
| TRAF3 | NM_003300.3 | ||
| TRAF3IP2 | NM_147686.3 | ||
| TREX1 | NM_033629.4 | ||
| TRNT1 | NM_182916.2 | ||
| TTC37 | NM_014639.3 | ||
| TTC7A | NM_020458.3 | ||
| TYK2 | NM_003331.4 | ||
| UNC13D | NM_199242.2 | ||
| UNC45A | NM_018671.4 | ||
| UNC93B1* | NM_030930.3 | ||
| UNG | NM_080911.2 | ||
| USB1 | NM_024598.3 | ||
| VAV1 | NM_005428.3 | ||
| VPS13B | NM_017890.4 | ||
| VPS45 | NM_007259.4 | ||
| WAS | NM_000377.2 | ||
| WDR1 | NM_017491.3 | ||
| WIPF1 | NM_001077269.1 | ||
| WRAP53 | NM_018081.2 | ||
| XIAP | NM_001167.3 | ||
| ZAP70 | NM_001079.3 | ||
| ZBTB24 | NM_014797.2 | ||
| ZCCHC8 | NM_017612.4 | ||
| ZMYND10 | NM_015896.2 | ||
| ZNF341 | NM_032819.4 |
ARMC4: Deletion/duplication and sequencing analysis is not offered for exon 9.
ATM: Sequencing analysis for exons 6, 24, 43 includes only cds +/- 10 bp.
CFH: Deletion/duplication analysis is not offered for exons 20, 22 and sequencing analysis is not offered for exons 15, 20, 22.
CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[13]T[5] (also known as T5TG13), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G. Sequencing analysis for exons 7 includes only cds +/- 10 bp.
CORO1A: Deletion/duplication and sequencing analysis is not offered for exon 11.
CSF2RA: Deletion/duplication analysis is not offered for this gene.
DUOX2: Deletion/duplication and sequencing analysis is not offered for exons 6-7.
EFL1: Deletion/duplication and sequencing analysis is not offered for exons 7, 15.
FANCL: Sequencing analysis for exons 4, 10 includes only cds +/- 10 bp.
MSH6: Sequencing analysis for exons 7, 10 includes only cds +/- 10 bp.
NOTCH2: Deletion/duplication and sequencing analysis is not offered for exons 1-4.
PMS2: Sequencing analysis for exons 7 includes only cds +/- 10 bp.
POLD1: Sequencing analysis for exons 22 includes only cds +/- 10 bp.
PTEN: Deletion/duplication analysis covers the promoter region. Sequencing analysis for exons 8 includes only cds +/- 10 bp.
PTPRC: Sequencing analysis is not offered for exons 3, 15.
RANBP2: Deletion/duplication and sequencing analysis is not offered for exons 1-11, 15-29.
RPGR: Only the transcript associated with X-linked PCD is analyzed; therefore, this test is not appropriate for XLRP.
SAR1B: Deletion/duplication analysis is not offered for exon 5.
SI: Deletion/duplication analysis is not offered for exon 7.
SLC9A3: Deletion/duplication analysis is not offered for exon 8.
STAT5B: Deletion/duplication and sequencing analysis is not offered for exons 6-8.
TOP2B: Deletion/duplication analysis is not offered for exon 5.
UNC93B1: Deletion/duplication analysis is not offered for exon 11.
