Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13999 ACD 81479,81479 Order Options and Pricing
ACP5 81479,81479
ACTB 81479,81479
ADA 81479,81479
ADA2 81479,81479
ADAM17 81479,81479
ADAMTS13 81479,81479
ADAR 81479,81479
AICDA 81479,81479
AIRE 81406,81479
AK2 81479,81479
ALPI 81479,81479
AP1S3 81479,81479
AP3B1 81479,81479
AP3D1 81479,81479
APOL1 81479,81479
ARHGEF1 81479,81479
ARMC4 81479,81479
ARPC1B 81479,81479
ATM 81408,81479
ATP6AP1 81479,81479
B2M 81479,81479
BACH2 81479,81479
BCL10 81479,81479
BCL11B 81479,81479
BLM 81479,81479
BLNK 81479,81479
BLOC1S3 81479,81479
BLOC1S6 81479,81479
BRCA2 81216,81167
BRIP1 81479,81479
BTK 81406,81479
C1QA 81479,81479
C1QB 81479,81479
C1QC 81479,81479
C1R 81479,81479
C1S 81479,81479
C2 81479,81479
C3 81479,81479
C4BPA 81479,81479
C5 81479,81479
C6 81479,81479
C7 81479,81479
C8A 81479,81479
C8B 81479,81479
C8G 81479,81479
C9 81479,81479
CARD11 81479,81479
CARD14 81479,81479
CARD9 81479,81479
CARMIL2 81479,81479
CASP10 81479,81479
CASP8 81479,81479
CAVIN1 81479,81479
CCBE1 81479,81479
CCDC103 81479,81479
CCDC114 81479,81479
CCDC39 81479,81479
CCDC40 81479,81479
CCDC65 81479,81479
CCNO 81479,81479
CD19 81479,81479
CD247 81479,81479
CD27 81479,81479
CD3D 81479,81479
CD3E 81479,81479
CD3G 81479,81479
CD40 81479,81479
CD40LG 81404,81479
CD46 81479,81479
CD55 81479,81479
CD59 81479,81479
CD70 81479,81479
CD79A 81479,81479
CD79B 81479,81479
CD81 81479,81479
CD8A 81479,81479
CDCA7 81479,81479
CDK9 81479,81479
CEBPE 81479,81479
CENPF 81479,81479
CFAP298 81479,81479
CFB 81479,81479
CFD 81479,81479
CFH 81479,81479
CFI 81479,81479
CFP 81479,81479
CFTR 81223,81222
CHD7 81407,81479
CIITA 81479,81479
CLCN7 81479,81479
CLEC7A 81479,81479
CLPB 81479,81479
COG6 81479,81479
COLEC11 81479,81479
COPA 81479,81479
CORO1A 81479,81479
CR2 81479,81479
CREBBP 81407,81406
CSF2RB 81479,81479
CSF3R 81479,81479
CTC1 81479,81479
CTLA4 81479,81479
CTPS1 81479,81479
CTSC 81479,81479
CXCR4 81479,81479
CYBA 81479,81479
CYBB 81479,81479
CYBC1 81479,81479
DBR1 81479,81479
DCLRE1B 81479,81479
DCLRE1C 81479,81479
DDX58 81479,81479
DGKE 81479,81479
DHFR 81479,81479
DKC1 81479,81479
DNAAF1 81479,81479
DNAAF2 81479,81479
DNAAF3 81479,81479
DNAAF4 81479,81479
DNAAF5 81479,81479
DNAH1 81479,81479
DNAH11 81479,81479
DNAH5 81479,81479
DNAI1 81479,81479
DNAI2 81479,81479
DNAJC21 81479,81479
DNAL1 81479,81479
DNASE1L3 81479,81479
DNASE2 81479,81479
DNMT3B 81479,81479
DOCK2 81479,81479
DOCK8 81479,81479
DRC1 81479,81479
DTNBP1 81479,81479
EFL1 81479,81479
ELANE 81479,81479
EPG5 81479,81479
ERCC2 81479,81479
ERCC3 81479,81479
ERCC4 81479,81479
ERCC6L2 81479,81479
ETV6 81479,81479
EXTL3 81479,81479
F11 81479,81479
F13A1 81479,81479
F13B 81479,81479
F5 81479,81479
F7 81479,81479
F8 81407,81406
F9 81238,81479
FAAP24 81479,81479
FADD 81479,81479
FANCA 81479,81479
FANCB 81479,81479
FANCC 81479,81479
FANCD2 81479,81479
FANCE 81479,81479
FANCF 81479,81479
FANCG 81479,81479
FANCI 81479,81479
FANCL 81479,81479
FANCM 81479,81479
FAS 81479,81479
FASLG 81479,81479
FAT4 81479,81479
FCHO1 81479,81479
FCN3 81479,81479
FERMT3 81479,81479
FGA 81479,81479
FGB 81479,81479
FOXN1 81479,81479
FOXP3 81479,81479
FPR1 81479,81479
G6PC 81479,81479
G6PC3 81479,81479
G6PD 81249,81479
GAS8 81479,81479
GATA1 81479,81479
GATA2 81479,81479
GFI1 81479,81479
GINS1 81479,81479
GP1BA 81479,81479
GP1BB 81404,81479
GP9 81479,81479
GTF2H5 81479,81479
HAX1 81479,81479
HELLS 81479,81479
HMOX1 81479,81479
HPS1 81479,81479
HPS3 81479,81479
HPS4 81479,81479
HPS5 81479,81479
HPS6 81479,81479
HYDIN 81479,81479
HYOU1 81479,81479
ICOS 81479,81479
IFIH1 81479,81479
IFNAR2 81479,81479
IFNGR1 81479,81479
IFNGR2 81479,81479
IGHM 81479,81479
IGKC 81479,81479
IGLL1 81479,81479
IKBKB 81479,81479
IKBKG 81479,81479
IKZF1 81479,81479
IL10 81479,81479
IL10RA 81479,81479
IL10RB 81479,81479
IL12B 81479,81479
IL12RB1 81479,81479
IL17F 81479,81479
IL17RA 81479,81479
IL17RC 81479,81479
IL1RN 81479,81479
IL2 81479,81479
IL21 81479,81479
IL21R 81479,81479
IL23R 81479,81479
IL2RA 81479,81479
IL2RB 81479,81479
IL2RG 81405,81479
IL36RN 81479,81479
IL6ST 81479,81479
IL7R 81479,81479
INO80 81479,81479
INSR 81479,81479
INVS 81479,81479
IRAK1 81479,81479
IRAK4 81479,81479
IRF2BP2 81479,81479
IRF3 81479,81479
IRF7 81479,81479
IRF8 81479,81479
ISG15 81479,81479
ITCH 81479,81479
ITGAM 81479,81479
ITGB2 81479,81479
ITK 81479,81479
JAGN1 81479,81479
JAK1 81479,81479
JAK2 81479,81479
JAK3 81479,81479
KDM6A 81479,81479
KMT2D 81479,81479
KRAS 81405,81479
LAMTOR2 81479,81479
LAT 81479,81479
LCK 81479,81479
LIG1 81479,81479
LIG4 81479,81479
LPIN2 81479,81479
LRBA 81479,81479
LRRC6 81479,81479
LRRC8A 81479,81479
LYST 81479,81479
MAGT1 81479,81479
MALT1 81479,81479
MAN2B1 81479,81479
MANBA 81479,81479
MAP3K14 81479,81479
MASP1 81479,81479
MASP2 81479,81479
MBL2 81479,81479
MC2R 81479,81479
MCM4 81479,81479
MEFV 81404,81479
MLPH 81479,81479
MOGS 81479,81479
MPL 81479,81479
MPO 81479,81479
MRE11 81479,81479
MRTFA 81479,81479
MS4A1 81479,81479
MSH6 81298,81479
MSN 81479,81479
MTHFD1 81479,81479
MVK 81479,81479
MYD88 81479,81479
MYH9 81479,81479
MYO5A 81479,81479
MYSM1 81479,81479
NBAS 81479,81479
NBN 81479,81479
NCF2 81479,81479
NCF4 81479,81479
NCSTN 81479,81479
NFAT5 81479,81479
NFKB1 81479,81479
NFKB2 81479,81479
NFKBIA 81479,81479
NHEJ1 81479,81479
NHP2 81479,81479
NKX2-5 81479,81479
NLRC4 81479,81479
NLRP1 81479,81479
NLRP12 81479,81479
NLRP3 81479,81479
NME8 81479,81479
NOD2 81479,81479
NOP10 81479,81479
NRAS 81479,81479
NSMCE3 81479,81479
OFD1 81479,81479
ORAI1 81479,81479
OSTM1 81479,81479
OTULIN 81479,81479
PALB2 81307,81479
PARN 81479,81479
PCCA 81406,81405
PCCB 81406,81479
PEPD 81479,81479
PGM3 81479,81479
PI4KA 81479,81479
PIGA 81479,81479
PIH1D3 81479,81479
PIK3CD 81479,81479
PIK3R1 81479,81479
PLCG2 81479,81479
PLG 81479,81479
PMM2 81479,81479
PMS2 81317,81319
PNP 81479,81479
POLA1 81479,81479
POLE 81479,81479
POLE2 81479,81479
POMP 81479,81479
PRF1 81479,81479
PRG4 81479,81479
PRKCD 81479,81479
PRKDC 81479,81479
PROC 81479,81479
PROS1 81479,81479
PSEN1 81405,81479
PSENEN 81479,81479
PSMB8 81479,81479
PSTPIP1 81479,81479
PTEN 81321,81323
PTPRC 81479,81479
RAB27A 81479,81479
RAC2 81479,81479
RAD50 81479,81479
RAD51C 81479,81479
RAG1 81479,81479
RAG2 81479,81479
RANBP2 81479,81479
RASGRP1 81479,81479
RBCK1 81479,81479
RBM8A 81479,81479
RECQL4 81479,81479
RELA 81479,81479
RELB 81479,81479
RFX5 81479,81479
RFXANK 81479,81479
RFXAP 81479,81479
RHOH 81479,81479
RIPK1 81479,81479
RMRP 81479,81479
RNASEH2A 81479,81479
RNASEH2B 81479,81479
RNASEH2C 81479,81479
RNF168 81479,81479
RNF31 81479,81479
RNU4ATAC 81479,81479
RORC 81479,81479
RPGR 81479,81479
RPL11 81479,81479
RPL15 81479,81479
RPL26 81479,81479
RPL35A 81479,81479
RPL36 81479,81479
RPL5 81479,81479
RPS10 81479,81479
RPS15 81479,81479
RPS15A 81479,81479
RPS17 81479,81479
RPS19 81405,81479
RPS24 81479,81479
RPS26 81479,81479
RPS27A 81479,81479
RPS28 81479,81479
RPS29 81479,81479
RPS7 81479,81479
RPSA 81479,81479
RSPH1 81479,81479
RSPH3 81479,81479
RSPH4A 81479,81479
RSPH9 81479,81479
RTEL1 81479,81479
RUNX1 81479,81479
SAMD9 81479,81479
SAMD9L 81479,81479
SAMHD1 81479,81479
SBDS 81479,81479
SEMA3E 81479,81479
SERPING1 81479,81479
SH2D1A 81404,81403
SH3BP2 81479,81479
SKIV2L 81479,81479
SLC29A3 81479,81479
SLC35A1 81479,81479
SLC35C1 81479,81479
SLC37A4 81406,81479
SLC39A4 81479,81479
SLC39A7 81479,81479
SLC46A1 81479,81479
SLC7A7 81479,81479
SLX4 81479,81479
SMARCAL1 81479,81479
SMARCD2 81479,81479
SNX10 81479,81479
SP110 81479,81479
SPAG1 81479,81479
SPINK5 81479,81479
SPPL2A 81479,81479
SRP54 81479,81479
SRP72 81479,81479
STAT1 81479,81479
STAT2 81479,81479
STAT3 81479,81479
STAT5B 81479,81479
STIM1 81479,81479
STK4 81479,81479
STN1 81479,81479
STX11 81479,81479
STXBP2 81479,81479
TAP1 81479,81479
TAP2 81479,81479
TAPBP 81479,81479
TAZ 81406,81479
TBK1 81479,81479
TBX1 81479,81479
TCF3 81479,81479
TCIRG1 81479,81479
TCN2 81479,81479
TERC 81479,81479
TERT 81479,81479
TFRC 81479,81479
TGFB1 81479,81479
THBD 81479,81479
TICAM1 81479,81479
TINF2 81479,81479
TIRAP 81479,81479
TLR3 81479,81479
TMC6 81479,81479
TMC8 81479,81479
TMEM173 81479,81479
TNFAIP3 81479,81479
TNFRSF11A 81479,81479
TNFRSF13B 81479,81479
TNFRSF13C 81479,81479
TNFRSF1A 81479,81479
TNFRSF4 81479,81479
TNFRSF9 81479,81479
TNFSF11 81479,81479
TNFSF12 81479,81479
TPP1 81479,81479
TPP2 81479,81479
TRAC 81479,81479
TRADD 81479,81479
TRAF3 81479,81479
TRAF3IP2 81479,81479
TREX1 81479,81479
TRNT1 81479,81479
TTC37 81479,81479
TTC7A 81479,81479
TYK2 81479,81479
UNC119 81479,81479
UNC13D 81479,81479
UNC93B1 81479,81479
UNG 81479,81479
USB1 81479,81479
USP18 81479,81479
VPS13B 81408,81407
VPS45 81479,81479
WAS 81406,81479
WDR1 81479,81479
WIPF1 81479,81479
WRAP53 81479,81479
XIAP 81479,81479
XK 81479,81479
ZAP70 81479,81479
ZBTB24 81479,81479
ZMYND10 81479,81479
ZNF341 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13999Genes x (486)81479 81167, 81216, 81222, 81223, 81238, 81249, 81298, 81307, 81317, 81319, 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1490 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

There are currently over 400 different inborn errors of immunity, also referred to as primary immunodeficiencies (PID) that range in severity and age of onset. PIDs, when considered individually, were previously considered rare diseases with an incidence ranging from ~1 in 10,000 to 1 in 50,000 births; however, when considered collectively and with improved definitions of clinical phenotypes and newborn screening the incidence may be closer to ~1 in 1,000 to 1 in 5,000 births (Griffith et al. 2016. PubMed ID: 27262745; Tangye et al. 2020. PubMed ID: 31953710). PIDs encompass a variety of different disorder subclasses including antibody deficiencies, autoinflammatory disorders, combined immunodeficiencies, diseases of immune dysregulation, congenital defects in phagocyte function or numbers, defects in innate immunity, complement deficiencies, and phenocopies of inborn errors of immunity (Picard et al. 2018. PubMed ID: 29226302; Bousfiha et al. 2018. PubMed ID: 29226301; Tangye et al. 2020. PubMed ID: 31953710). Overall, PIDs are associated with an increased susceptibility to infectious disease, autoimmunity, autoinflammatory diseases, allergy, and/or malignancy (Tangye et al. 2020. PubMed ID: 31953710). However, many PIDs have overlapping symptoms making diagnosis challenging. Different therapeutics may be utilized to manage the various diseases (Griffith et al. 2016. PubMed ID: 27262745). Many acquired or secondary PIDs can be caused by malnutrition, infections, environmental stress, drugs, surgery or trauma.

Of note, a PID classification phone app that is based on the International Union of Immunological Societies committee report is available for use (PID Phenotypical Diagnosis App). This app allows one to explore the various PIDs by searching classification tables, specific PIDs, or clinical manifestations.

Genetics

This test includes genes identified through literature, OMIM, and HGMD searches that have a reported association with PIDs. In addition, this panel includes genes associated with a variety of inborn errors of immunity as described by the International Union of Immunological Societies Primary Immunodeficiency Diseases Committee (Picard et al. 2018. PubMed ID: 29226302; Bousfiha et al. 2018. PubMed ID: 29226301; Tangye et al. 2020. PubMed ID: 31953710).

Inborn errors of immunity are genetically heterogeneous disorders. Disorders may be inherited in an autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) manner, or may arise de novo. Causative variants may include missense, nonsense, splicing, regulatory, or copy number alterations.

See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 95.9% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of the disorders tested in this panel, the clinical sensitivity of this specific grouping of genes is difficult to estimate. Clinical sensitivity varies depending on the underlying immunodeficiency.

One study analyzed the clinical efficacy of a 242 gene PID panel and determined that of the 27 individuals with symptoms suggestive of a PID 48% (13/27) received a monogenic diagnosis (Rae et al. 2018. PubMed ID: 29077208). Another study analyzed causative PID genes in infants less than three months old with infections or abnormal white blood cell counts and identified 2.13% of the cohort had an undiagnosed PID (Sun et al. 2020. PubMed ID: 32431812). Another study utilized clinical exome sequencing in individuals with a suspected PID and determined a molecular diagnosis in 31% of the cohort, however 20% had variants in known PID genes while 11% had variants in other genes (Rudilla et al. 2019. PubMed ID: 31681265).

Indications for Test

Candidates for testing include individuals that present with severe, persistent, unusual and/or recurrent infections, autoimmunity, autoinflammatory diseases, allergies, or have a family history for PID (Immune Deficiency Foundation Guidelines; Jeffrey Modell Foundation Guidelines; PID Phenotypical Diagnosis App).

Genes

Official Gene Symbol OMIM ID
ACD 609377
ACP5 171640
ACTB 102630
ADA 608958
ADA2 607575
ADAM17 603639
ADAMTS13 604134
ADAR 146920
AICDA 605257
AIRE 607358
AK2 103020
ALPI 171740
AP1S3 615781
AP3B1 603401
AP3D1 607246
APOL1 603743
ARHGEF1 601855
ARMC4 615408
ARPC1B 604223
ATM 607585
ATP6AP1 300197
B2M 109700
BACH2 605394
BCL10 603517
BCL11B 606558
BLM 604610
BLNK 604515
BLOC1S3 609762
BLOC1S6 604310
BRCA2 600185
BRIP1 605882
BTK 300300
C1QA 120550
C1QB 120570
C1QC 120575
C1R 613785
C1S 120580
C2 613927
C3 120700
C4BPA 120830
C5 120900
C6 217050
C7 217070
C8A 120950
C8B 120960
C8G 120930
C9 120940
CARD11 607210
CARD14 607211
CARD9 607212
CARMIL2 610859
CASP10 601762
CASP8 601763
CAVIN1 603198
CCBE1 612753
CCDC103 614677
CCDC114 615038
CCDC39 613798
CCDC40 613799
CCDC65 611088
CCNO 607752
CD19 107265
CD247 186780
CD27 186711
CD3D 186790
CD3E 186830
CD3G 186740
CD40 109535
CD40LG 300386
CD46 120920
CD55 125240
CD59 107271
CD70 602840
CD79A 112205
CD79B 147245
CD81 186845
CD8A 186910
CDCA7 609937
CDK9 603251
CEBPE 600749
CENPF 600236
CFAP298 615494
CFB 138470
CFD 134350
CFH 134370
CFI 217030
CFP 300383
CFTR 602421
CHD7 608892
CIITA 600005
CLCN7 602727
CLEC7A 606264
CLPB 616254
COG6 606977
COLEC11 612502
COPA 601924
CORO1A 605000
CR2 120650
CREBBP 600140
CSF2RB 138981
CSF3R 138971
CTC1 613129
CTLA4 123890
CTPS1 123860
CTSC 602365
CXCR4 162643
CYBA 608508
CYBB 300481
CYBC1 618334
DBR1 607024
DCLRE1B 609683
DCLRE1C 605988
DDX58 609631
DGKE 601440
DHFR 126060
DKC1 300126
DNAAF1 613190
DNAAF2 612517
DNAAF3 614566
DNAAF4 608706
DNAAF5 614864
DNAH1 603332
DNAH11 603339
DNAH5 603335
DNAI1 604366
DNAI2 605483
DNAJC21 617048
DNAL1 610062
DNASE1L3 602244
DNASE2 126350
DNMT3B 602900
DOCK2 603122
DOCK8 611432
DRC1 615288
DTNBP1 607145
EFL1 617538
ELANE 130130
EPG5 615068
ERCC2 126340
ERCC3 133510
ERCC4 133520
ERCC6L2 615667
ETV6 600618
EXTL3 605744
F11 264900
F13A1 134570
F13B 134580
F5 612309
F7 613878
F8 300841
F9 300746
FAAP24 610884
FADD 602457
FANCA 607139
FANCB 300515
FANCC 613899
FANCD2 613984
FANCE 613976
FANCF 613897
FANCG 602956
FANCI 611360
FANCL 608111
FANCM 609644
FAS 134637
FASLG 134638
FAT4 612411
FCHO1 613437
FCN3 604973
FERMT3 607901
FGA 134820
FGB 134830
FOXN1 600838
FOXP3 300292
FPR1 136537
G6PC 613742
G6PC3 611045
G6PD 305900
GAS8 605178
GATA1 305371
GATA2 137295
GFI1 600871
GINS1 610608
GP1BA 606672
GP1BB 138720
GP9 173515
GTF2H5 608780
HAX1 605998
HELLS 603946
HMOX1 141250
HPS1 604982
HPS3 606118
HPS4 606682
HPS5 607521
HPS6 607522
HYDIN 610812
HYOU1 601746
ICOS 604558
IFIH1 606951
IFNAR2 602376
IFNGR1 107470
IFNGR2 147569
IGHM 147020
IGKC 147200
IGLL1 146770
IKBKB 603258
IKBKG 300248
IKZF1 603023
IL10 124092
IL10RA 146933
IL10RB 123889
IL12B 161561
IL12RB1 601604
IL17F 606496
IL17RA 605461
IL17RC 610925
IL1RN 147679
IL2 147680
IL21 605384
IL21R 605383
IL23R 607562
IL2RA 147730
IL2RB 146710
IL2RG 308380
IL36RN 605507
IL6ST 600694
IL7R 146661
INO80 610169
INSR 147670
INVS 243305
IRAK1 300283
IRAK4 606883
IRF2BP2 615332
IRF3 603734
IRF7 605047
IRF8 601565
ISG15 147571
ITCH 606409
ITGAM 120980
ITGB2 600065
ITK 186973
JAGN1 616012
JAK1 147795
JAK2 147796
JAK3 600173
KDM6A 300128
KMT2D 602113
KRAS 190070
LAMTOR2 610389
LAT 602354
LCK 153390
LIG1 126391
LIG4 601837
LPIN2 605519
LRBA 606453
LRRC6 614930
LRRC8A 608360
LYST 606897
MAGT1 300715
MALT1 604860
MAN2B1 609458
MANBA 609489
MAP3K14 604655
MASP1 600521
MASP2 605102
MBL2 154545
MC2R 607397
MCM4 602638
MEFV 608107
MLPH 606526
MOGS 601336
MPL 159530
MPO 606989
MRE11 600814
MRTFA 606078
MS4A1 112210
MSH6 600678
MSN 309845
MTHFD1 172460
MVK 251170
MYD88 602170
MYH9 160775
MYO5A 160777
MYSM1 612176
NBAS 608025
NBN 602667
NCF2 608515
NCF4 601488
NCSTN 605254
NFAT5 604708
NFKB1 164011
NFKB2 164012
NFKBIA 164008
NHEJ1 611290
NHP2 606470
NKX2-5 600584
NLRC4 606831
NLRP1 606636
NLRP12 609648
NLRP3 606416
NME8 607421
NOD2 605956
NOP10 606471
NRAS 164790
NSMCE3 608243
OFD1 300170
ORAI1 610277
OSTM1 607649
OTULIN 615712
PALB2 610355
PARN 604212
PCCA 232000
PCCB 232050
PEPD 613230
PGM3 172100
PI4KA 600286
PIGA 311770
PIH1D3 300933
PIK3CD 602839
PIK3R1 171833
PLCG2 600220
PLG 173350
PMM2 601785
PMS2 600259
PNP 164050
POLA1 312040
POLE 174762
POLE2 602670
POMP 613386
PRF1 170280
PRG4 604283
PRKCD 176977
PRKDC 600899
PROC 612283
PROS1 176880
PSEN1 104311
PSENEN 607632
PSMB8 177046
PSTPIP1 606347
PTEN 601728
PTPRC 151460
RAB27A 603868
RAC2 602049
RAD50 604040
RAD51C 602774
RAG1 179615
RAG2 179616
RANBP2 601181
RASGRP1 603962
RBCK1 610924
RBM8A 605313
RECQL4 603780
RELA 164014
RELB 604758
RFX5 601863
RFXANK 603200
RFXAP 601861
RHOH 602037
RIPK1 603453
RMRP 157660
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RNF168 612688
RNF31 612487
RNU4ATAC 601428
RORC 602943
RPGR 312610
RPL11 604175
RPL15 604174
RPL26 603704
RPL35A 180468
RPL36 617893
RPL5 603634
RPS10 603632
RPS15 180535
RPS15A 603674
RPS17 180472
RPS19 603474
RPS24 602412
RPS26 603701
RPS27A 191343
RPS28 603685
RPS29 603633
RPS7 603658
RPSA 150370
RSPH1 609314
RSPH3 615876
RSPH4A 612647
RSPH9 612648
RTEL1 608833
RUNX1 151385
SAMD9 610456
SAMD9L 611170
SAMHD1 606754
SBDS 607444
SEMA3E 608166
SERPING1 606860
SH2D1A 300490
SH3BP2 602104
SKIV2L 600478
SLC29A3 612373
SLC35A1 605634
SLC35C1 605881
SLC37A4 602671
SLC39A4 607059
SLC39A7 601416
SLC46A1 611672
SLC7A7 603593
SLX4 613278
SMARCAL1 606622
SMARCD2 601736
SNX10 614780
SP110 604457
SPAG1 603395
SPINK5 605010
SPPL2A 608238
SRP54 604857
SRP72 602122
STAT1 600555
STAT2 600556
STAT3 102582
STAT5B 604260
STIM1 605921
STK4 604965
STN1 613128
STX11 605014
STXBP2 601717
TAP1 170260
TAP2 170261
TAPBP 601962
TAZ 300394
TBK1 604834
TBX1 602054
TCF3 147141
TCIRG1 604592
TCN2 613441
TERC 602322
TERT 187270
TFRC 190010
TGFB1 190180
THBD 188040
TICAM1 607601
TINF2 604319
TIRAP 606252
TLR3 603029
TMC6 605828
TMC8 605829
TMEM173 612374
TNFAIP3 191163
TNFRSF11A 603499
TNFRSF13B 604907
TNFRSF13C 606269
TNFRSF1A 191190
TNFRSF4 600315
TNFRSF9 602250
TNFSF11 602642
TNFSF12 602695
TPP1 607998
TPP2 190470
TRAC 186880
TRADD 603500
TRAF3 601896
TRAF3IP2 607043
TREX1 606609
TRNT1 612907
TTC37 614589
TTC7A 609332
TYK2 176941
UNC119 604011
UNC13D 608897
UNC93B1 608204
UNG 191525
USB1 613276
USP18 607057
VPS13B 607817
VPS45 610035
WAS 300392
WDR1 604734
WIPF1 602357
WRAP53 612661
XIAP 300079
XK 314850
ZAP70 176947
ZBTB24 614064
ZMYND10 607070
ZNF341 618269
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 2 XL 302060
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
3MC syndrome 1 AR 257920
3MC syndrome 2 AR 265050
Acne Inversa, Familial, 2 AD 613736
Acne Inversa, Familial, 3 AD 613737
Acrodermatitis Enteropathica AR 201100
ACTH Resistance AR 202200
Afibrinogenemia AR 610984
Afibrinogenemia, congenital AR 202400
Agammaglobulinemia 1 AR 601495
Agammaglobulinemia 2, Autosomal Recessive AR 613500
Agammaglobulinemia 3, Autosomal Recessive AR 613501
Agammaglobulinemia 4, Autosomal Recessive AR 613502
Agammaglobulinemia 5, Autosomal Dominant AD 613506
Agammaglobulinemia 6, Autosomal Recessive AR 612692
Agammaglobulinemia 7, Autosomal Recessive AR 615214
Agammaglobulinemia 8, autosomal dominant AD 616941
Aicardi-Goutieres Syndrome 1 AD 225750
Aicardi-Goutieres Syndrome 2 AR 610181
Aicardi-Goutieres Syndrome 3 AR 610329
Aicardi-Goutieres Syndrome 4 AR 610333
Aicardi-Goutieres Syndrome 5 AR 612952
Aicardi-Goutieres Syndrome 6 AR 615010
Aicardi-Goutieres Syndrome 7 AD 615846
Alzheimer's Disease AD 104300
Aml - Acute Myeloid Leukemia 601626
Anauxetic Dysplasia AR 607095
Aspergillosis, Susceptibility To 614079
Asplenia, isolated congenital AD 271400
Ataxia-Pancytopenia Syndrome AD 159550
Ataxia-Telangiectasia Syndrome AR 208900
Ataxia-Telangiectasia-Like Disorder AR 604391
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Atypical Hemolytic-Uremic Syndrome 1 AD 235400
Atypical Hemolytic-Uremic Syndrome 2 AD 612922
Atypical Hemolytic-Uremic Syndrome 3 AD 612923
Atypical Hemolytic-Uremic Syndrome 4 AD 612924
Atypical Hemolytic-Uremic Syndrome 5 AD 612925
Atypical Hemolytic-Uremic Syndrome 6 AD 612926
Atypical Mycobacteriosis, Familial AR 209950
Atypical Mycobacteriosis, Familial, X-Linked 2 XL 300645
Autoimmune Disease, Multisystem, Infantile-Onset, 1 AD 615952
Autoimmune disease, multisystem, infantile-onset, 2 AR 617006
Autoimmune Disease, Syndromic Multisystem AR 613385
Autoimmune interstitial lung, joint, and kidney disease AD 616414
Autoimmune Lymphoproliferative Syndrome AD 601859
Autoimmune Lymphoproliferative Syndrome, Type 2 AD 603909
Autoimmune Lymphoproliferative Syndrome, Type III AR 615559
Autoimmune Lymphoproliferative Syndrome, Type V AD 616100
Autoinflammation with arthritis and dyskeratosis AR 617388
Autoinflammation with Infantile Enterocolitis AD 616050
Autoinflammation, antibody deficiency, and immune dysregulation syndrome AD 614878
Autoinflammation, panniculitis, and dermatosis syndrome AR 617099
Autoinflammatory Syndrome, Familial, Behcet-like AD 616744
B-cell expansion with NFKB and T-cell anergy AD 616452
Bacteremia, Susceptibility To, 1 AR 614382
Baller-Gerold Syndrome AR 218600
Baraitser-Winter Syndrome 1 AD 243310
Bare Lymphocyte Syndrome, Type I AR 604571
Bernard Soulier Syndrome AR 231200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant AD 153670
Beta-D-Mannosidosis AR 248510
Bloom Syndrome AR 210900
Bone Marrow Failure Syndrome 1 AD 614675
Bone Marrow Failure Syndrome 2 AR 615715
Bone Marrow Failure Syndrome 3 AR 617052
Breast-Ovarian Cancer, Familial 2 AD 612555
Breast-Ovarian Cancer, Familial 3 613399
Bronchiectasis AD 211400
Budd-Chiari Syndrome 600880
C1q Deficiency AR 613652
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome AR 208250
Camurati-Engelmann Disease AD 131300
Candidiasis, Familial, 2 AR 212050
Candidiasis, Familial, 4 AR 613108
Candidiasis, Familial, 5 AR 613953
Candidiasis, Familial, 6 AD 613956
Candidiasis, Familial, 7 AD 614162
Candidiasis, familial, 9 AR 616445
Caspase-8 Deficiency AR 607271
Cd59 Deficiency AR 612300
Cd8 Deficiency, Familial AR 608957
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency AR 242860
Cerebrooculofacioskeletal Syndrome 2 AR 610756
Cerebroretinal Microangiopathy with Calcifications and Cysts AR 612199
Cerebroretinal microangiopathy with calcifications and cysts 2 AR 617341
Ceroid Lipofuscinosis Neuronal 2 AR 204500
CHARGE Association AD 214800
Chediak-Higashi Syndrome AR 214500
Cherubism AD 118400
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome AR 256040
Chronic granulomatous disease 5, autosomal recessive AR 618935
Chronic Infantile Neurological, Cutaneous And Articular Syndrome AD 607115
Ciliary Dyskinesia, Primary, 1 AR 244400
Ciliary Dyskinesia, Primary, 10 612518
Ciliary Dyskinesia, Primary, 11 612649
Ciliary Dyskinesia, Primary, 12 612650
Ciliary Dyskinesia, Primary, 13 AR 613193
Ciliary Dyskinesia, Primary, 14 613807
Ciliary Dyskinesia, Primary, 15 613808
Ciliary Dyskinesia, Primary, 16 AR 614017
Ciliary Dyskinesia, Primary, 17 AR 614679
Ciliary Dyskinesia, Primary, 18 AR 614874
Ciliary Dyskinesia, Primary, 19 AR 614935
Ciliary Dyskinesia, Primary, 2 AR 606763
Ciliary Dyskinesia, Primary, 20 AR 615067
Ciliary Dyskinesia, Primary, 21 AR 615294
Ciliary Dyskinesia, Primary, 22 AR 615444
Ciliary Dyskinesia, Primary, 23 AR 615451
Ciliary Dyskinesia, Primary, 24 AR 615481
Ciliary Dyskinesia, Primary, 25 AR 615482
Ciliary Dyskinesia, Primary, 26 AR 615500
Ciliary Dyskinesia, Primary, 27 AR 615504
Ciliary Dyskinesia, Primary, 28 AR 615505
Ciliary Dyskinesia, primary, 29 AR 615872
Ciliary Dyskinesia, Primary, 3 608644
Ciliary Dyskinesia, Primary, 32 AR 616481
Ciliary Dyskinesia, Primary, 33 AR 616726
Ciliary Dyskinesia, Primary, 37 AR 617577
Ciliary dyskinesia, primary, 5 AR 608647
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 612444
Cohen Syndrome AR 216550
Combined Cellular And Humoral Immune Defects With Granulomas AR 233650
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia AR 617780
Combined Immunodeficiency, X-Linked XL 312863
Common Variable Agammaglobulinemia AD 240500
Complement Component 2 Deficiency AR 217000
Complement Component 3 Deficiency, Autosomal Recessive AR 613779
Complement Component 4, Partial Deficiency Of AD 120790
Complement Component 6 Deficiency AR 612446
Complement Component 7 Deficiency AR 610102
Complement Component 8 Deficiency Type 1 AR 613790
Complement Component 8 Deficiency Type 2 AR 613789
Complement Component 9 Deficiency AR 613825
Complement Component c1s Deficiency AR 613783
Complement factor B deficiency 615561
Complement Factor D Deficiency AR 613912
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy AR 226300
Complete Trisomy 21 Syndrome 190685
Cone-Rod Dystrophy, X-Linked, 1 XL 304020
Congenital Amegakaryocytic Thrombocytopenia AR 604498
Congenital Bilateral Absence Of The Vas Deferens AR 277180
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 2C AR 266265
Congenital Disorder Of Glycosylation Type 2F AR 603585
Congenital Disorder Of Glycosylation Type IIb AR 606056
Congenital Disorder of Glycosylation Type IIl AR 614576
Conotruncal Heart Malformations 217095
Coumarin Resistance AD 122700
Cyclical Neutropenia AD 162800
Cystic Fibrosis AR 219700
Deafness, Autosomal Dominant 17 AD 603622
Deficiency Of Alpha-Mannosidase AR 248500
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency AD 614172
Diamond Blackfan anemia 15 with mandibulofacial dysostosis AD 606164
Diamond-Blackfan Anemia 1 AD 105650
Diamond-Blackfan Anemia 10 AD 613309
Diamond-Blackfan Anemia 11 AD 614900
Diamond-Blackfan Anemia 12 AD 615550
Diamond-Blackfan anemia 13 AD 615909
Diamond-Blackfan anemia 20 AD 618313
Diamond-Blackfan Anemia 3 AD 610629
Diamond-Blackfan Anemia 4 AD 612527
Diamond-Blackfan Anemia 5 AD 612528
Diamond-Blackfan Anemia 6 AD 612561
Diamond-Blackfan Anemia 7 AD 612562
Diamond-Blackfan Anemia 8 AD 612563
Diamond-Blackfan Anemia 9 AD 613308
Digeorge Sequence AD 188400
Dysfibrinogenemia, congenital 616004
Dyskeratosis Congenita Autosomal Dominant AD 127550
Dyskeratosis Congenita Autosomal Recessive AR 224230
Dyskeratosis Congenita X-Linked XL 305000
Dyskeratosis Congenita, Autosomal Dominant 4 AD 615190
Dyskeratosis congenita, autosomal dominant 6 AR 616553
Dyskeratosis Congenita, Autosomal Dominant, 2 AR 613989
Dyskeratosis Congenita, Autosomal Dominant, 3 AD 613990
Dyskeratosis Congenita, Autosomal Recessive 6 AR 616353
Dyskeratosis Congenita, Autosomal Recessive, 2 AR 613987
Dyskeratosis Congenita, Autosomal Recessive, 3 AR 613988
Dyslexia 1 AD 127700
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant AD 612132
Ehlers-Danlos Syndrome, Type VIII AD 130080
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 614849
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 AD 614850
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 AD 616532
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD 617900
Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To AD 608033
Epidermodysplasia Verruciformis AR 226400
Factor H Deficiency AD 609814
Factor V Deficiency AR 227400
Factor VII Deficiency AR 227500
Factor XIII, A Subunit, Deficiency Of AR 613225
Factor XIII, B Subunit, Deficiency Of AR 613235
Fallot Tetralogy AD 187500
Familial Amyloid Nephropathy With Urticaria And Deafness AD 191900
Familial Cancer Of Breast 114480
Familial Cold Autoinflammatory Syndrome 2 AD 611762
Familial cold autoinflammatory syndrome 3 AD 614468
Familial cold autoinflammatory syndrome 4 AD 616115
Familial Cold Urticaria AD 120100
Familial Erythrocytosis, 1 133100
Familial Mediterranean Fever AR 249100
Familial Mediterranean Fever, Autosomal Dominant AD 134610
Familial Visceral Amyloidosis, Ostertag Type AD 105200
Fanconi Anemia, Complementation Group A AR 227650
Fanconi Anemia, Complementation Group B XL 300514
Fanconi Anemia, Complementation Group C AR 227645
Fanconi Anemia, Complementation Group D1 AR 605724
Fanconi Anemia, Complementation Group D2 AR 227646
Fanconi Anemia, Complementation Group E AR 600901
Fanconi Anemia, Complementation Group F 603467
Fanconi Anemia, Complementation Group G 614082
Fanconi Anemia, Complementation Group I AR 609053
Fanconi Anemia, Complementation Group J 609054
Fanconi Anemia, Complementation Group L AR 614083
Fanconi Anemia, Complementation Group N 610832
Fanconi Anemia, Complementation Group O AR 613390
Fanconi Anemia, Complementation Group P AR 613951
Fanconi anemia, Complementation Group Q AR 615272
FILS syndrome AR 615139
Focal Segmental Glomerulosclerosis 4, Susceptibility To AR 612551
Folate Malabsorption, Hereditary AR 229050
Gastrointestinal defects and immunodeficiency syndrome AR 243150
GATA-1-Related Thrombocytopenia With Dyserythropoiesis XL 300367
Glioma Susceptibility 3 AR 613029
Glycogen Storage Disease Type Ia AR 232200
Glycogen Storage Disease Type Ib AR 232220
Glycogen Storage Disease Type Ic AR 232240
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative AR 233690
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II AR 233710
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III AR 613960
Granulomatous Disease, Chronic, X-Linked XL 306400
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial AD 186580
Griscelli Syndrome Type 1 AR 214450
Griscelli Syndrome Type 2 AR 607624
Griscelli Syndrome Type 3 AR 609227
Growth Hormone Insensitivity With Immunodeficiency AR 245590
Heme Oxygenase 1 Deficiency 614034
Hemolytic anemia due to G6PD deficiency XL 300908
Hemolytic uremic syndrome, atypical, susceptibility to, 2 AD 612922
Hemophagocytic Lymphohistiocytosis, Familial, 2 AR 603553
Hemophagocytic Lymphohistiocytosis, Familial, 3 AR 608898
Hemophagocytic Lymphohistiocytosis, Familial, 4 AR 603552
Hemophagocytic lymphohistiocytosis, Familial, 5 AD, AR 613101
Hemophilia A, Congenital XL 306700
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 AR 616006
Hennekam Syndrome AR 235510
Hepatic Venoocclusive Disease With Immunodeficiency AR 235550
Hereditary Angioneurotic Edema AD 106100
Hereditary Factor IX Deficiency Disease XL 306900
Hereditary Factor XI Deficiency Disease 612416
Hermansky-Pudlak Syndrome 1 AR 203300
Hermansky-Pudlak Syndrome 10 AR 617050
Hermansky-Pudlak Syndrome 2 AR 608233
Hermansky-Pudlak Syndrome 3 AR 614072
Hermansky-Pudlak Syndrome 4 AR 614073
Hermansky-Pudlak Syndrome 5 AR 614074
Hermansky-Pudlak Syndrome 6 AR 614075
Hermansky-Pudlak Syndrome 7 AR 614076
Hermansky-Pudlak Syndrome 8 AR 614077
Hermansky-Pudlak Syndrome 9 AR 614171
Herpes Simplex Encephalitis 1 AR 610551
Herpes Simplex Encephalitis 2 AD 613002
Hidradenitis Suppurativa, Familial AD 142690
Histiocytosis-lymphadenopathy plus syndrome AR 602782
Hyper-IgE recurrent infection syndrome 3, autosomal recessive AR 618282
Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523
Hyperimmunoglobulin D With Periodic Fever AR 260920
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive AR 243700
Hyperimmunoglobulin E Syndrome AD 147060
Hyperinsulinemic Hypoglycemia Familial 5 AD 609968
Hypoplastic Left Heart Syndrome 2 AD 614435
Hypoproteinemia, Hypercatabolic AR 241600
Hypothyroidism, Congenital, Nongoitrous, 5 AD 225250
IL12RB1 Deficiency AR 614891
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 AR 612782
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 AR 612783
Immunodeficiency 11A AR 615206
Immunodeficiency 11B with atopic dermatitis AD 617638
Immunodeficiency 12 AR 615468
Immunodeficiency 13 AD 615518
Immunodeficiency 14 AD 615513
Immunodeficiency 15 AR 615592
Immunodeficiency 16 AR 615593
Immunodeficiency 17, CD3 gamma deficient AR 615607
Immunodeficiency 18 AR 615615
Immunodeficiency 19 AR 615617
Immunodeficiency 22 AR 615758
Immunodeficiency 23 AR 615816
Immunodeficiency 24 AR 615897
Immunodeficiency 26, with or without neurologic abnormalities AR 615966
Immunodeficiency 27B, mycobacteriosis, AD AD 615978
Immunodeficiency 28, mycobacteriosis AR 614889
Immunodeficiency 29, mycobacteriosis AR 614890
Immunodeficiency 31A, mycobacteriosis, autosomal dominant AD 614892
Immunodeficiency 32A, mycobacteriosis, autosomal dominant AD 614893
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive AR 226990
Immunodeficiency 36 AD 616005
Immunodeficiency 37 AR 616098
Immunodeficiency 38 AR 616126
Immunodeficiency 39 AR 616345
Immunodeficiency 40 AR 616433
Immunodeficiency 42 AR 616622
Immunodeficiency 44 AR 616636
Immunodeficiency 45 AR 616669
Immunodeficiency 46 AR 616740
Immunodeficiency 48 AR 269840
Immunodeficiency 49 AD 617237
Immunodeficiency 50 XL 300988
Immunodeficiency 52 AR 617514
Immunodeficiency 53 AR 617585
Immunodeficiency 54 AR 609981
Immunodeficiency 55 AR 617827
Immunodeficiency 56 AR 615207
Immunodeficiency 57 AR 618108
Immunodeficiency 62 AR 618459
Immunodeficiency 63 with lymphoproliferation and autoimmunity AR 618495
Immunodeficiency 7, TCR-alpha/beta deficient AR 615387
Immunodeficiency 8 AR 615401
Immunodeficiency and Hepatopathy with Cutis Laxa XL 300972
Immunodeficiency Due To Defect In Cd3-Zeta AR 610163
Immunodeficiency Due To Defect In Mapbp-Interacting Protein AR 610798
Immunodeficiency Due To Ficolin 3 Deficiency AR 613860
Immunodeficiency With Hyper Igm Type 1 XL 308230
Immunodeficiency With Hyper IgM Type 2 AR 605258
Immunodeficiency With Hyper IgM Type 3 AR 606843
Immunodeficiency With Hyper IgM Type 5 AR 608106
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia XL 300584
Immunodeficiency, Common Variable, 1 AR 607594
Immunodeficiency, common variable, 10 AD 615577
Immunodeficiency, common variable, 11 AR 615767
Immunodeficiency, common variable, 12 AD 616576
Immunodeficiency, common variable, 13 AD 616873
Immunodeficiency, common variable, 14 AD 617765
Immunodeficiency, Common Variable, 3 AR 613493
Immunodeficiency, Common Variable, 4 AR 613494
Immunodeficiency, Common Variable, 5 AR 613495
Immunodeficiency, Common Variable, 6 AR 613496
Immunodeficiency, common variable, 7 AR 614699
Immunodeficiency, Common Variable, 8, with Autoimmunity AR 614700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia XL 300853
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 AR 614069
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 AR 616910
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 AR 616911
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked XL 304790
Immunoglobulin A Deficiency 2 AD 609529
Immunoglobulin Kappa Light Chain Deficiency AR 614102
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities AR 617425
Incontinentia Pigmenti XL 308300
Infantile Liver Failure Syndrome 2 AR 616483
Infantile Nephronophthisis AR 602088
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations AR 613759
Inflammatory Bowel Disease 17 612261
Inflammatory Bowel Disease 25, Autosomal Recessive AR 612567
Inflammatory Bowel Disease 28, Autosomal Recessive AR 613148
Inflammatory bowel disease, immunodeficiency, and encephalopathy AR 618213
Inflammatory Skin And Bowel Disease, Neonatal AR 614328
Insulin-Resistant Diabetes Mellitus And Acanthosis Nigricans 610549
Interleukin 2 Receptor, Alpha, Deficiency Of AR 606367
Interleukin 36 Receptor Antagonist Deficiency AR 614204
IRAK4 Deficiency AR 607676
Ischemic Stroke MF 601367
Joubert Syndrome 10 XL 300804
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 5 AD 612370
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma AR 601952
Leiner Disease AR 609536
Leprechaunism Syndrome AR 246200
Leukocyte Adhesion Deficiency Type 1 AR 116920
Leukocyte Adhesion Deficiency, Type III AR 612840
Lig4 Syndrome AR 606593
Lipodystrophy, Congenital Generalized, Type 4 AR 613327
Lung disease, immunodeficiency, and chromosome breakage syndrome AR 617241
Lymphoproliferative Syndrome 2 AR 615122
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 AR 613011
Lymphoproliferative Syndrome, X-Linked, 1 XL 308240
Lymphoproliferative Syndrome, X-Linked, 2 XL 300635
Lysinuric Protein Intolerance AR 222700
Macular Degeneration, X-Linked Atrophic XL 300834
Majeed Syndrome AR 609628
Mannose-Binding Protein Deficiency AD 614372
Masp2 Deficiency AR 613791
May-Hegglin Anomaly AD 155100
McLeod Syndrome XL 300842
Medulloblastoma 155255
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency AR 613839
Menke-Hennekam syndrome 1 618332
Metaphyseal Chondrodysplasia, Mckusick Type AR 250250
Metaphyseal Dysplasia Without Hypotrichosis AR 250460
Mevalonic Aciduria AR 610377
MIRAGE syndrome AD 617053
Mucocutaneous ulceration, chronic AD 618287
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive AR 613796
Myd88 Deficiency AR 612260
Myelofibrosis 254450
Myeloperoxidase Deficiency AR 254600
Myocardial Infarction 1 608446
Nephrotic Syndrome, Type 7 AR 615008
Netherton Syndrome AR 256500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults AD 607847
Neutropenia, Severe Congenital, 2, Autosomal Dominant AD 613107
Neutropenia, Severe Congenital, 5, Autosomal Recessive AR 615285
Neutropenia, Severe Congenital, 6, Autosomal Recessive AR 616022
Neutropenia, severe congenital, 7, autosomal recessive AR 617014
Neutrophil Immunodeficiency Syndrome AD 608203
Nijmegen Breakage Syndrome AR 251260
Nijmegen Breakage Syndrome-Like Disorder 613078
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To AR 258660
Omenn Syndrome AR 603554
Oral-Facial-Digital Syndrome XL 311200
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis AR 612852
Osteopetrosis Autosomal Dominant Type 2 AD 166600
Osteopetrosis Autosomal Recessive 1 AR 259700
Osteopetrosis Autosomal Recessive 2 AR 259710
Osteopetrosis Autosomal Recessive 4 AR 611490
Osteopetrosis Autosomal Recessive 5 AR 259720
Osteopetrosis Autosomal Recessive 7 AR 612301
Osteopetrosis, Autosomal Recessive 8 AR 615085
Palmoplantar carcinoma, multiple self-healing AD 615225
Pancreatic Cancer 2 613347
Pancreatic Cancer 3 613348
Pancreatitis, Chronic AD 167800
Papillon-Lefevre Syndrome AR 245000
Paroxysmal Nocturnal Hemoglobinuria 300818
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-linked XL 301220
Pineal Hyperplasia And Diabetes Mellitus Syndrome AR 262190
Pityriasis rubra pilaris AD 173200
Plasminogen Deficiency, Type I AR 217090
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease AR 617718
Poikiloderma With Neutropenia AR 604173
Polyarteritis nodosa, childhood-onset AR 615688
Polycythemia Vera 263300
Polyglandular Autoimmune Syndrome, Type 1 AD 240300
Polyglucosan Body Myopathy 1 with or without Immunodeficiency AR 615895
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis AR 616531
Polyostotic Osteolytic Dysplasia, Hereditary Expansile AD 174810
Premature ovarian failure 15 AR 618096
Prolidase Deficiency AR 170100
Properdin Deficiency, X-Linked XL 312060
Propionic Acidemia AR 606054
Prostate Cancer 176807
Proteasome-associated autoinflammatory syndrome 2 AD 618048
Pseudo Von Willebrand Disease AD 177820
Pseudo-TORCH syndrome 2 AR 617397
Psoriasis 15, pustular, susceptibility to AD 616106
Psoriasis Susceptibility 13 AR 614070
Psoriasis susceptibility 2 AD 602723
Purine Nucleoside Phosphorylase Deficiency AR 613179
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne AD 604416
Rapadilino Syndrome AR 266280
RAS-Associated Autoimmune Leukoproliferative Disorder AD 614470
Reticular Dysgenesis AR 267500
Retinitis Pigmentosa 15 300029
Retinitis Pigmentosa 23 XL 300424
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 300455
Riddle Syndrome AR 611943
Roifman syndrome AR 616651
Rothmund-Thomson Syndrome AR 268400
Rubinstein-Taybi Syndrome AD 180849
Schimke Immunoosseous Dysplasia AR 242900
SCID Due To Absent Class II HLA Antigens AR 209920
SCID, autosomal recessive, T-negative/B-positive type AR 600802
Severe Combined Immunodeficiency Due To Ada Deficiency AR 102700
Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation AR 611291
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation AR 602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive AR 608971
Severe Congenital Neutropenia Autosomal Dominant AD 202700
Severe Congenital Neutropenia Autosomal Recessive 3 AR 610738
Severe Congenital Neutropenia X-Linked XL 300299
Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, NK Cell-Positive AR 601457
Shaheen syndrome AR 615328
Shwachman Syndrome AR 260400
Shwachman-Diamond syndrome 2 AR 617941
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay AR 616084
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Singleton-Merten syndrome 2 AD 616298
Specific Granule Deficiency AR 245480
Specific Granule Deficiency 2 AR 617475
Spermatogenic failure 18 AR 617576
Spermatogenic failure 28 AR 618086
Spondyloenchondrodysplasia With Immune Dysregulation AR 607944
Stromme syndrome AR 243605
Surfactant Metabolism Dysfunction, Pulmonary, 5 AR 614370
Systemic lupus erythematosus 16 AR 614420
Systemic Lupus Erythematosus 9 AR 610927
T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy AR 601705
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations AR 614868
Thrombocythemia 2 AD 601977
Thrombocythemia 3 AD 614521
Thrombocytopenia 5 AD 616216
Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia AD 601399
Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis XL 314050
Thrombocytopenia-Absent Radius Syndrome AR 274000
Thrombophilia Due To Activated Protein C Resistance AD 188055
Thrombophilia Due to Protein S Deficiency, Autosomal Dominant AD 612336
Thrombophilia Due to Protein S Deficiency, Autosomal Recessive AR 614514
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant AD 176860
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive AR 612304
Thrombophilia, X-Linked, Due To Factor IX Defect 300807
Thrombosis, Susceptibility To AD 188050
Thrombotic Thrombocytopenic Purpura AR 274150
Tnf Receptor-Associated Periodic Fever Syndrome (Traps) AD 142680
Transcobalamin II Deficiency AR 275350
Trichohepatoenteric syndrome 1 AR 222470
Trichohepatoenteric syndrome 2 AR 614602
Trichothiodystrophy 2, photosensitive AR 616390
Trichothiodystrophy 3, photosensitive 616395
Trichothiodystrophy Photosensitive AR 601675
Turcot Syndrome AR 276300
Tyrosine Kinase 2 Deficiency AR 611521
Ventricular Septal Defect 3 AD 614432
Vici Syndrome AR 242840
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 606579
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis AD 193670
Wilms' Tumor 194070
Wiskott-Aldrich Syndrome XL 301000
Wiskott-Aldrich Syndrome 2 AR 614493
X-Linked Agammaglobulinemia XL 300755
X-Linked Agammaglobulinemia With Growth Hormone Deficiency XL 307200
X-Linked Anemia Without Thromobocytopenia XL 300835
X-Linked Familial Atypical Mycobacteriosis, Type 1 XL 300636
X-Linked Severe Combined Immunodeficiency XL 300400
Xeroderma Pigmentosum, Complementation Group B AR 610651
Xeroderma Pigmentosum, Complementation Group D AR 278730
Xeroderma Pigmentosum, Complementation Group F AR 278760
XFE Progeroid Syndrome AR 610965
{Pregnancy loss, recurrent, susceptibility to, 1} AD 614389

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PGxome®

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