Primary Immunodeficiency and Lymphoid Malignancy Predisposition Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
19998 ABCB7 81479,81479 Order Options and Pricing
ABCG5 81479,81479
ABCG8 81479,81479
ACD 81479,81479
ACP5 81479,81479
ACTB 81479,81479
ACTN1 81479,81479
ADA 81479,81479
ADA2 81479,81479
ADAM17 81479,81479
ADAMTS13 81479,81479
ADAMTS3 81479,81479
ADAR 81479,81479
ADIPOQ 81479,81479
ADIPOR1 81479,81479
ADIPOR2 81479,81479
AICDA 81479,81479
AIRE 81406,81479
AK2 81479,81479
ALAS2 81479,81479
ALG6 81479,81479
ALPI 81479,81479
ANGPT1 81479,81479
ANKRD26 81479,81479
ANKZF1 81479,81479
AP1S3 81479,81479
AP3B1 81479,81479
AP3D1 81479,81479
APOA1 81479,81479
APOA2 81479,81479
APOL1 81479,81479
ARHGEF1 81479,81479
ARPC1B 81479,81479
ASAH1 81479,81479
ATM 81408,81479
ATP6AP1 81479,81479
ATR 81479,81479
ATRX 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
BRAF 81406,81479
BRCA1 and BRCA2 81162
BRIP1 81479,81479
BTK 81406,81479
C1QA 81479,81479
C1QB 81479,81479
C1QBP 81479,81479
C1QC 81479,81479
C1R 81479,81479
C1S 81479,81479
C2 81479,81479
C3 81479,81479
C3AR1 81479,81479
C4BPA 81479,81479
C4BPB 81479,81479
C5 81479,81479
C5AR1 81479,81479
C5AR2 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
CARD8 81479,81479
CARD9 81479,81479
CARMIL2 81479,81479
CASP10 81479,81479
CASP8 81479,81479
CAVIN1 81479,81479
CBL 81479,81479
CCBE1 81479,81479
CCDC103 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
CD93 81479,81479
CDAN1 81479,81479
CDC42 81479,81479
CDCA7 81479,81479
CDIN1 81479,81479
CDK9 81479,81479
CDKN2A 81404,81479
CEBPA 81218,81479
CEBPE 81479,81479
CENPF 81479,81479
CFAP298 81479,81479
CFAP300 81479,81479
CFB 81479,81479
CFD 81479,81479
CFH 81479,81479
CFI 81479,81479
CFP 81479,81479
CFTR 81223,81222
CHD7 81407,81479
CHEK2 81479,81479
CIB1 81479,81479
CIITA 81479,81479
CLCN7 81479,81479
CLEC7A 81479,81479
CLPB 81479,81479
CLU 81479,81479
COG6 81479,81479
COL7A1 81479,81479
COLEC11 81479,81479
COPA 81479,81479
CORO1A 81479,81479
CR2 81479,81479
CREBBP 81407,81406
CRP 81479,81479
CSF2RA 81479,81479
CSF2RB 81479,81479
CSF3R 81479,81479
CTC1 81479,81479
CTLA4 81479,81479
CTPS1 81479,81479
CTSC 81479,81479
CXCR2 81479,81479
CXCR4 81479,81479
CYBA 81479,81479
CYBB 81479,81479
CYBC1 81479,81479
CYCS 81479,81479
CYP27A1 81479,81479
DBR1 81479,81479
DCLRE1B 81479,81479
DCLRE1C 81479,81479
DDX11 81479,81479
DDX41 81479,81479
DDX58 81479,81479
DEF6 81479,81479
DGAT1 81479,81479
DGKE 81479,81479
DHFR 81479,81479
DIAPH1 81479,81479
DKC1 81479,81479
DNAAF1 81479,81479
DNAAF11 81479,81479
DNAAF2 81479,81479
DNAAF3 81479,81479
DNAAF4 81479,81479
DNAAF5 81479,81479
DNAAF6 81479,81479
DNAH1 81479,81479
DNAH11 81479,81479
DNAH5 81479,81479
DNAH9 81479,81479
DNAI1 81479,81479
DNAI2 81479,81479
DNAJC21 81479,81479
DNAL1 81479,81479
DNASE1L3 81479,81479
DNASE2 81479,81479
DNMT3A 81479,81479
DNMT3B 81479,81479
DOCK2 81479,81479
DOCK8 81479,81479
DRC1 81479,81479
DSG1 81479,81479
DTNBP1 81479,81479
DUOX2 81479,81479
EFL1 81479,81479
EIF2AK3 81479,81479
ELANE 81479,81479
EPCAM 81479,81403
EPG5 81479,81479
ERBIN 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
FCN1 81479,81479
FCN2 81479,81479
FCN3 81479,81479
FERMT1 81479,81479
FERMT3 81479,81479
FGA 81479,81479
FGB 81479,81479
FLI1 81479,81479
FOXI3 81479,81479
FOXN1 81479,81479
FOXP3 81479,81479
FPR1 81479,81479
FYB1 81479,81479
G6PC1 81479,81479
G6PC3 81479,81479
G6PD 81249,81479
GAS2L2 81479,81479
GAS8 81479,81479
GATA1 81479,81479
GATA2 81479,81479
GFI1 81479,81479
GFI1B 81479,81479
GINS1 81479,81479
GLRX5 81479,81479
GP1BA 81479,81479
GP1BB 81404,81479
GP9 81479,81479
GTF2E2 81479,81479
GTF2H5 81479,81479
GUCY2C 81479,81479
HAX1 81479,81479
HELLS 81479,81479
HLTF 81479,81479
HMOX1 81479,81479
HOXA11 81479,81479
HPS1 81479,81479
HPS3 81479,81479
HPS4 81479,81479
HPS5 81479,81479
HPS6 81479,81479
HSPA9 81479,81479
HTRA2 81479,81479
HYDIN 81479,81479
HYOU1 81479,81479
ICOS 81479,81479
ICOSLG 81479,81479
IFIH1 81479,81479
IFNAR1 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
IL12RB2 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
IL6R 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
IRF4 81479,81479
IRF7 81479,81479
IRF8 81479,81479
IRF9 81479,81479
ISG15 81479,81479
ITCH 81479,81479
ITGA2 81479,81479
ITGA2B 81479,81479
ITGAM 81479,81479
ITGB2 81479,81479
ITGB3 81479,81479
ITK 81479,81479
JAGN1 81479,81479
JAK1 81479,81479
JAK2 81479,81479
JAK3 81479,81479
KDM1A 81479,81479
KDM6A 81479,81479
KIF23 81479,81479
KLF1 81479,81479
KLHDC8B 81479,81479
KMT2A 81479,81479
KMT2D 81479,81479
KRAS 81405,81479
LAMTOR2 81479,81479
LAT 81479,81479
LCK 81479,81479
LCT 81479,81479
LIG1 81479,81479
LIG4 81479,81479
LIPA 81479,81479
LPIN2 81479,81479
LRBA 81479,81479
LRRC8A 81479,81479
LYN 81479,81479
LYST 81479,81479
MAD2L2 81479,81479
MAGT1 81479,81479
MALT1 81479,81479
MAN2B1 81479,81479
MANBA 81479,81479
MAP3K14 81479,81479
MASP1 81479,81479
MASP2 81479,81479
MASTL 81479,81479
MAT2A 81479,81479
MBD4 81479,81479
MBL2 81479,81479
MC2R 81479,81479
MCIDAS 81479,81479
MCM4 81479,81479
MECOM 81479,81479
MEFV 81404,81479
MLH1 81292,81294
MLPH 81479,81479
MOGS 81479,81479
MPIG6B 81479,81479
MPL 81479,81479
MPLKIP 81479,81479
MPO 81479,81479
MRE11 81479,81479
MRTFA 81479,81479
MS4A1 81479,81479
MSH2 81295,81297
MSH6 81298,81479
MSN 81479,81479
MTHFD1 81479,81479
MVK 81479,81479
MYD88 81479,81479
MYH9 81479,81479
MYO5A 81479,81479
MYO5B 81479,81479
MYSM1 81479,81479
NAF1 81479,81479
NBAS 81479,81479
NBEAL2 81479,81479
NBN 81479,81479
NCF2 81479,81479
NCF4 81479,81479
NCSTN 81479,81479
NEUROG3 81479,81479
NF1 81408,81479
NFAT5 81479,81479
NFE2L2 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
NPAT 81479,81479
NPM1 81479,81479
NRAS 81479,81479
NSMCE3 81479,81479
OAS1 81479,81479
ODAD1 81479,81479
ODAD2 81479,81479
OFD1 81479,81479
ORAI1 81479,81479
OSTM1 81479,81479
OTULIN 81479,81479
PALB2 81307,81479
PARN 81479,81479
PAX1 81479,81479
PAX5 81479,81479
PCCA 81406,81405
PCCB 81406,81479
PEPD 81479,81479
PGM3 81479,81479
PI4KA 81479,81479
PIEZO1 81479,81479
PIGA 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
POLD1 81479,81479
POLE 81479,81479
POLE2 81479,81479
POLR3A 81479,81479
POLR3C 81479,81479
POLR3F 81479,81479
POMP 81479,81479
POT1 81479,81479
PRF1 81479,81479
PRG4 81479,81479
PRKACG 81479,81479
PRKCD 81479,81479
PRKDC 81479,81479
PROC 81479,81479
PROS1 81479,81479
PSEN1 81405,81479
PSENEN 81479,81479
PSMA3 81479,81479
PSMB4 81479,81479
PSMB8 81479,81479
PSMG2 81479,81479
PSTPIP1 81479,81479
PTEN 81321,81323
PTPN11 81406,81479
PTPRC 81479,81479
PTPRU 81479,81479
PTX3 81479,81479
PUS1 81479,81479
RAB27A 81479,81479
RAC2 81479,81479
RAD23B 81479,81479
RAD50 81479,81479
RAD51 81479,81479
RAD51C 81479,81479
RAD51D 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
RFWD3 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
RNF113A 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
RPL27 81479,81479
RPL35A 81479,81479
RPL36 81479,81479
RPL5 81479,81479
RPS10 81479,81479
RPS14 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
SAMD14 81479,81479
SAMD9 81479,81479
SAMD9L 81479,81479
SAMHD1 81479,81479
SAR1B 81479,81479
SBDS 81479,81479
SBF2 81479,81479
SCO2 81404,81479
SEC23B 81479,81479
SEC61A1 81479,81479
SEMA3E 81479,81479
SEPTIN6 81479,81479
SERPING1 81479,81479
SETBP1 81479,81479
SH2B3 81479,81479
SH2D1A 81404,81403
SH3BP2 81479,81479
SH3KBP1 81479,81479
SI 81479,81479
SIAE 81479,81479
SKIV2L 81479,81479
SLC10A2 81479,81479
SLC19A2 81479,81479
SLC25A38 81479,81479
SLC26A3 81479,81479
SLC29A3 81479,81479
SLC35A1 81479,81479
SLC35C1 81479,81479
SLC37A4 81406,81479
SLC39A4 81479,81479
SLC39A7 81479,81479
SLC46A1 81479,81479
SLC5A1 81479,81479
SLC7A7 81479,81479
SLC9A3 81479,81479
SLX4 81479,81479
SMARCAL1 81479,81479
SMARCD2 81479,81479
SNX10 81479,81479
SP110 81479,81479
SPAG1 81479,81479
SPINK5 81479,81479
SPINT2 81479,81479
SPPL2A 81479,81479
SRP54 81479,81479
SRP72 81479,81479
STAT1 81479,81479
STAT2 81479,81479
STAT3 81479,81479
STAT4 81479,81479
STAT5B 81479,81479
STIM1 81479,81479
STING1 81479,81479
STK36 81479,81479
STK4 81479,81479
STN1 81479,81479
STX11 81479,81479
STX3 81479,81479
STXBP2 81479,81479
TAFAZZIN 81406,81479
TAOK2 81479,81479
TAP1 81479,81479
TAP2 81479,81479
TAPBP 81479,81479
TBK1 81479,81479
TBX1 81479,81479
TCF3 81479,81479
TCIRG1 81479,81479
TCN2 81479,81479
TERC 81479,81479
TERF2IP 81479,81479
TERT 81479,81479
TET2 81479,81479
TFRC 81479,81479
TGFB1 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
THBD 81479,81479
TICAM1 81479,81479
TIMM50 81479,81479
TINF2 81479,81479
TIRAP 81479,81479
TLR3 81479,81479
TMC6 81479,81479
TMC8 81479,81479
TNFAIP3 81479,81479
TNFRSF11A 81479,81479
TNFRSF13B 81479,81479
TNFRSF13C 81479,81479
TNFRSF1A 81479,81479
TNFRSF4 81479,81479
TNFRSF6B 81479,81479
TNFRSF9 81479,81479
TNFSF11 81479,81479
TNFSF12 81479,81479
TONSL 81479,81479
TOP2B 81479,81479
TP53 81405,81479
TP63 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
TSR2 81479,81479
TTC37 81479,81479
TTC7A 81479,81479
TUBB1 81479,81479
TYK2 81479,81479
UBA1 81479,81479
UBE2T 81479,81479
UNC119 81479,81479
UNC13D 81479,81479
UNC45A 81479,81479
UNC93B1 81479,81479
UNG 81479,81479
USB1 81479,81479
USP18 81479,81479
VAV1 81479,81479
VPS13B 81408,81407
VPS45 81479,81479
VSIG4 81479,81479
VTN 81479,81479
WAS 81406,81479
WDR1 81479,81479
WIPF1 81479,81479
WRAP53 81479,81479
XIAP 81479,81479
XK 81479,81479
XRCC2 81479,81479
ZAP70 81479,81479
ZBTB24 81479,81479
ZCCHC8 81479,81479
ZMYND10 81479,81479
ZNF341 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
19998Genes x (658)81479 81162, 81218, 81222, 81223, 81238, 81249, 81292, 81294, 81295, 81297, 81298, 81307, 81317, 81319, 81321, 81323, 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1540 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.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Primary immunodeficiencies (PID), or inborn errors of immunity, are a heterogenous group of disorders with an incidence of ~1 in 1,000 to 1 in 5,000 births (Griffith et al. 2016. PubMed ID: 27262745; Tangye et al. 2020. PubMed ID: 31953710). There are currently over 400 different PIDs that range in phenotypic severity and age of onset. 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, or malignancy (Tangye et al. 2020. PubMed ID: 31953710).

After infections, malignancy in PID patients is the second-highest cause of death in children and adults (Riaz et al. 2019. PubMed ID: 31057537). Some PIDs have a higher susceptibility to malignancy than others, specifically common variable immunodeficiency (CVID), combined immunodeficiencies affecting cellular immunity (especially DNA repair defects), or those that impair immune regulatory control (Riaz et al. 2019. PubMed ID: 31057537). Data from the United States Immune Deficiency Network (USIDNET) registry identified a 1.42-fold excess relative risk of cancer in individuals with PID as compared to age-adjusted controls (Mayor et al. 2018. PubMed ID: 28606585). There was a significant increase in lymphoma in both men and women with PID, while there was no significant increase in the incidence of lung, color, breast, or prostate cancers in the PID patients. 

Lymphoid malignancies are cancers that originate from cells of the immune system, lymphocytes. These malignancies may include non-Hodgkin lymphoma, Hodgkin lymphoma, myeloma, and lymphocytic leukemia. Lymphomas account for two-thirds of all malignancies reported in PID patients (Filipovich et al. 1992. PubMed ID: 1327508; Mayor et al. 2018. PubMed ID: 28606585) and more in individuals with either combined immunodeficiency, DNA repair defects, or antibody deficiencies (Filipovich et al. 1992. PubMed ID: 1327508; Vajdic et al. 2010. PubMed ID: 20466855; Riaz et al. 2019. PubMed ID: 31057537). Most lymphomas reported in relation to PID are B cell lymphomas; however, T cell lymphomas have been reported in a few studies and are generally associated with chromosomal breakage disorders or cartilage hair hypoplasia (Riaz et al. 2019. PubMed ID: 31057537). There may be a higher prevalence of T cell lymphoma in patients with secondary immunodeficiencies; however, this finding may be a result of treatment bias (Nijland et al. 2018. PubMed ID: 29269521). Due to poor prognosis and complex therapeutics approaches, the management of lymphoma in patients with a PID is difficult (Herber et al. 2020. PubMed ID: 31580160).

Genetics

This test includes genes identified through literature, OMIM, and HGMD searches that have a reported association with PIDs and lymphoid malignancy predisposition. 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 are also included (Picard et al. 2018. PubMed ID: 29226302; Bousfiha et al. 2020. PubMed ID: 32048120; Tangye et al. 2020. PubMed ID: 31953710).

Disorders leading to immunodeficiency and a lymphoid malignancy predisposition 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.

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 and malignancy.

Of note, of individuals within the USIDNET registry, CVID was the most common PID diagnosis (35%), followed by chronic granulomatous disease (13%), DiGeorge syndrome (12%), severe combined immunodeficiency (SCID, 7%), Wiskott-Aldrich syndrome (WAS, 7%), and Hyper IgM syndrome (4%). Due to the genetic heterogeneity associated with PID, no clear information on clinical sensitivity was able to be determined from the USIDNET data.

Testing Strategy

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

This panel typically provides 96.8% 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.

Due to the complexity of the region, there is limited coverage for the following genes: DDX11, F8, GP1BA, HYDIN, IKBKG, PI4KA, RANBP2, RPS17, and UPS18.

Exome wide CNV is included in this test to allow for detection of microdeletion/duplication syndromes associated with the genes included in the panel. We only report those exome-wide CNVs that are possibly associated with the patient’s phenotype provided by the health-care provider. The report will include pathogenic and likely pathogenic variants that may not be related to the patient's phenotype, but may indicate carrier status for an autosomal recessive disorder or a predisposition for an autosomal dominant disorder included on the panel. However, the report will not include all the observed rare variants of uncertain significance due to the large number of genes included in this panel. Variants of uncertain significance and risk variants that are considered to contribute to the patient's phenotype will be reported. CNVs that are found to encompass all or part of a gene(s) that is known or possibly associated with the patient’s phenotype will also be reported. A list of all rare variants included in this panel is available along with our interpretations upon request.

Reports will consist of two different sections:

• Variants in genes known to be associated with the provided phenotype

• Variants in genes possibly associated with the provided phenotype

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

Indications for Test

Candidates for testing include adult individuals that present with severe, persistent, unusual, or recurrent infections, autoimmunity, autoinflammatory disease, allergies, or a lymphoid malignancy. Individuals with a family history for PID or a lymphoid malignancy are also candidates for testing.

Genes

Official Gene Symbol OMIM ID
ABCB7 300135
ABCG5 605459
ABCG8 605460
ACD 609377
ACP5 171640
ACTB 102630
ACTN1 102575
ADA 608958
ADA2 607575
ADAM17 603639
ADAMTS13 604134
ADAMTS3 605011
ADAR 146920
ADIPOQ 605441
ADIPOR1 607945
ADIPOR2 607946
AICDA 605257
AIRE 607358
AK2 103020
ALAS2 301300
ALG6 604566
ALPI 171740
ANGPT1 601667
ANKRD26 610855
ANKZF1 617541
AP1S3 615781
AP3B1 603401
AP3D1 607246
APOA1 107680
APOA2 107670
APOL1 603743
ARHGEF1 601855
ARPC1B 604223
ASAH1 613468
ATM 607585
ATP6AP1 300197
ATR 601215
ATRX 300032
B2M 109700
BACH2 605394
BCL10 603517
BCL11B 606558
BLM 604610
BLNK 604515
BLOC1S3 609762
BLOC1S6 604310
BRAF 164757
BRCA1 113705
BRCA2 600185
BRIP1 605882
BTK 300300
C1QA 120550
C1QB 120570
C1QBP 601269
C1QC 120575
C1R 613785
C1S 120580
C2 613927
C3 120700
C3AR1 605246
C4BPA 120830
C4BPB 120831
C5 120900
C5AR1 113995
C5AR2 609949
C6 217050
C7 217070
C8A 120950
C8B 120960
C8G 120930
C9 120940
CARD11 607210
CARD14 607211
CARD8 609051
CARD9 607212
CARMIL2 610859
CASP10 601762
CASP8 601763
CAVIN1 603198
CBL 165360
CCBE1 612753
CCDC103 614677
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
CD93 120577
CDAN1 607465
CDC42 116952
CDCA7 609937
CDIN1 615626
CDK9 603251
CDKN2A 600160
CEBPA 116897
CEBPE 600749
CENPF 600236
CFAP298 615494
CFAP300 618058
CFB 138470
CFD 134350
CFH 134370
CFI 217030
CFP 300383
CFTR 602421
CHD7 608892
CHEK2 604373
CIB1 602293
CIITA 600005
CLCN7 602727
CLEC7A 606264
CLPB 616254
CLU 185430
COG6 606977
COL7A1 120120
COLEC11 612502
COPA 601924
CORO1A 605000
CR2 120650
CREBBP 600140
CRP 123260
CSF2RA 425000
CSF2RB 138981
CSF3R 138971
CTC1 613129
CTLA4 123890
CTPS1 123860
CTSC 602365
CXCR2 146928
CXCR4 162643
CYBA 608508
CYBB 300481
CYBC1 618334
CYCS 123970
CYP27A1 606530
DBR1 607024
DCLRE1B 609683
DCLRE1C 605988
DDX11 601150
DDX41 608170
DDX58 609631
DEF6 610094
DGAT1 604900
DGKE 601440
DHFR 126060
DIAPH1 602121
DKC1 300126
DNAAF1 613190
DNAAF11 614930
DNAAF2 612517
DNAAF3 614566
DNAAF4 608706
DNAAF5 614864
DNAAF6 300933
DNAH1 603332
DNAH11 603339
DNAH5 603335
DNAH9 603330
DNAI1 604366
DNAI2 605483
DNAJC21 617048
DNAL1 610062
DNASE1L3 602244
DNASE2 126350
DNMT3A 602769
DNMT3B 602900
DOCK2 603122
DOCK8 611432
DRC1 615288
DSG1 125670
DTNBP1 607145
DUOX2 606759
EFL1 617538
EIF2AK3 604032
ELANE 130130
EPCAM 185535
EPG5 615068
ERBIN 606944
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
FCN1 601252
FCN2 601624
FCN3 604973
FERMT1 607900
FERMT3 607901
FGA 134820
FGB 134830
FLI1 193067
FOXI3 612351
FOXN1 600838
FOXP3 300292
FPR1 136537
FYB1 602731
G6PC1 613742
G6PC3 611045
G6PD 305900
GAS2L2 611398
GAS8 605178
GATA1 305371
GATA2 137295
GFI1 600871
GFI1B 604383
GINS1 610608
GLRX5 609588
GP1BA 606672
GP1BB 138720
GP9 173515
GTF2E2 189964
GTF2H5 608780
GUCY2C 601330
HAX1 605998
HELLS 603946
HLTF 603257
HMOX1 141250
HOXA11 142958
HPS1 604982
HPS3 606118
HPS4 606682
HPS5 607521
HPS6 607522
HSPA9 600548
HTRA2 606441
HYDIN 610812
HYOU1 601746
ICOS 604558
ICOSLG 605717
IFIH1 606951
IFNAR1 107450
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
IL12RB2 601642
IL17F 606496
IL17RA 605461
IL17RC 610925
IL1RN 147679
IL2 147680
IL21 605384
IL21R 605383
IL23R 607562
IL2RA 147730
IL2RB 146710
IL2RG 308380
IL36RN 605507
IL6R 147880
IL6ST 600694
IL7R 146661
INO80 610169
INSR 147670
INVS 243305
IRAK1 300283
IRAK4 606883
IRF2BP2 615332
IRF3 603734
IRF4 601900
IRF7 605047
IRF8 601565
IRF9 147574
ISG15 147571
ITCH 606409
ITGA2 192974
ITGA2B 607759
ITGAM 120980
ITGB2 600065
ITGB3 173470
ITK 186973
JAGN1 616012
JAK1 147795
JAK2 147796
JAK3 600173
KDM1A 609132
KDM6A 300128
KIF23 605064
KLF1 600599
KLHDC8B 613169
KMT2A 159555
KMT2D 602113
KRAS 190070
LAMTOR2 610389
LAT 602354
LCK 153390
LCT 603202
LIG1 126391
LIG4 601837
LIPA 613497
LPIN2 605519
LRBA 606453
LRRC8A 608360
LYN 165120
LYST 606897
MAD2L2 604094
MAGT1 300715
MALT1 604860
MAN2B1 609458
MANBA 609489
MAP3K14 604655
MASP1 600521
MASP2 605102
MASTL 608221
MAT2A 601468
MBD4 603574
MBL2 154545
MC2R 607397
MCIDAS 614086
MCM4 602638
MECOM 165215
MEFV 608107
MLH1 120436
MLPH 606526
MOGS 601336
MPIG6B 606520
MPL 159530
MPLKIP 609188
MPO 606989
MRE11 600814
MRTFA 606078
MS4A1 112210
MSH2 609309
MSH6 600678
MSN 309845
MTHFD1 172460
MVK 251170
MYD88 602170
MYH9 160775
MYO5A 160777
MYO5B 606540
MYSM1 612176
NAF1 617868
NBAS 608025
NBEAL2 614169
NBN 602667
NCF2 608515
NCF4 601488
NCSTN 605254
NEUROG3 604882
NF1 613113
NFAT5 604708
NFE2L2 600492
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
NPAT 601448
NPM1 164040
NRAS 164790
NSMCE3 608243
OAS1 164350
ODAD1 615038
ODAD2 615408
OFD1 300170
ORAI1 610277
OSTM1 607649
OTULIN 615712
PALB2 610355
PARN 604212
PAX1 167411
PAX5 167414
PCCA 232000
PCCB 232050
PEPD 613230
PGM3 172100
PI4KA 600286
PIEZO1 611184
PIGA 311770
PIK3CD 602839
PIK3R1 171833
PLCG2 600220
PLG 173350
PMM2 601785
PMS2 600259
PNP 164050
POLA1 312040
POLD1 174761
POLE 174762
POLE2 602670
POLR3A 614258
POLR3C 0
POLR3F 0
POMP 613386
POT1 606478
PRF1 170280
PRG4 604283
PRKACG 176893
PRKCD 176977
PRKDC 600899
PROC 612283
PROS1 176880
PSEN1 104311
PSENEN 607632
PSMA3 176843
PSMB4 602177
PSMB8 177046
PSMG2 609702
PSTPIP1 606347
PTEN 601728
PTPN11 176876
PTPRC 151460
PTPRU 602454
PTX3 602492
PUS1 608109
RAB27A 603868
RAC2 602049
RAD23B 600062
RAD50 604040
RAD51 179617
RAD51C 602774
RAD51D 602954
RAG1 179615
RAG2 179616
RANBP2 601181
RASGRP1 603962
RBCK1 610924
RBM8A 605313
RECQL4 603780
RELA 164014
RELB 604758
RFWD3 614151
RFX5 601863
RFXANK 603200
RFXAP 601861
RHOH 602037
RIPK1 603453
RMRP 157660
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RNF113A 300951
RNF168 612688
RNF31 612487
RNU4ATAC 601428
RORC 602943
RPGR 312610
RPL11 604175
RPL15 604174
RPL26 603704
RPL27 607526
RPL35A 180468
RPL36 617893
RPL5 603634
RPS10 603632
RPS14 130620
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
SAMD14 619233
SAMD9 610456
SAMD9L 611170
SAMHD1 606754
SAR1B 607690
SBDS 607444
SBF2 607697
SCO2 604272
SEC23B 610512
SEC61A1 609213
SEMA3E 608166
SEPTIN6 300683
SERPING1 606860
SETBP1 611060
SH2B3 605093
SH2D1A 300490
SH3BP2 602104
SH3KBP1 300374
SI 609845
SIAE 610079
SKIV2L 600478
SLC10A2 601295
SLC19A2 603941
SLC25A38 610819
SLC26A3 126650
SLC29A3 612373
SLC35A1 605634
SLC35C1 605881
SLC37A4 602671
SLC39A4 607059
SLC39A7 601416
SLC46A1 611672
SLC5A1 182380
SLC7A7 603593
SLC9A3 182307
SLX4 613278
SMARCAL1 606622
SMARCD2 601736
SNX10 614780
SP110 604457
SPAG1 603395
SPINK5 605010
SPINT2 605124
SPPL2A 608238
SRP54 604857
SRP72 602122
STAT1 600555
STAT2 600556
STAT3 102582
STAT4 600558
STAT5B 604260
STIM1 605921
STING1 612374
STK36 607652
STK4 604965
STN1 613128
STX11 605014
STX3 600876
STXBP2 601717
TAFAZZIN 300394
TAOK2 613199
TAP1 170260
TAP2 170261
TAPBP 601962
TBK1 604834
TBX1 602054
TCF3 147141
TCIRG1 604592
TCN2 613441
TERC 602322
TERF2IP 605061
TERT 187270
TET2 612839
TFRC 190010
TGFB1 190180
TGFBR1 190181
TGFBR2 190182
THBD 188040
TICAM1 607601
TIMM50 607381
TINF2 604319
TIRAP 606252
TLR3 603029
TMC6 605828
TMC8 605829
TNFAIP3 191163
TNFRSF11A 603499
TNFRSF13B 604907
TNFRSF13C 606269
TNFRSF1A 191190
TNFRSF4 600315
TNFRSF6B 603361
TNFRSF9 602250
TNFSF11 602642
TNFSF12 602695
TONSL 604546
TOP2B 126431
TP53 191170
TP63 603273
TPP1 607998
TPP2 190470
TRAC 186880
TRADD 603500
TRAF3 601896
TRAF3IP2 607043
TREX1 606609
TRNT1 612907
TSR2 300945
TTC37 614589
TTC7A 609332
TUBB1 612901
TYK2 176941
UBA1 314370
UBE2T 610538
UNC119 604011
UNC13D 608897
UNC45A 611219
UNC93B1 608204
UNG 191525
USB1 613276
USP18 607057
VAV1 164875
VPS13B 607817
VPS45 610035
VSIG4 300353
VTN 193190
WAS 300392
WDR1 604734
WIPF1 602357
WRAP53 612661
XIAP 300079
XK 314850
XRCC2 600375
ZAP70 176947
ZBTB24 614064
ZCCHC8 616381
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 IX AR 617698
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
3-methylglutaconic aciduria, type VIII AR 617248
3MC syndrome 1 AR 257920
3MC syndrome 2 AR 265050
5Q- Syndrome 153550
Acne Inversa, Familial, 2 AD 613736
Acne Inversa, Familial, 3 AD 613737
Acrodermatitis Enteropathica AR 201100
ACTH Resistance AR 202200
Acute Lymphoblastic Leukemia 613065
Adrenocortical Carcinoma, Hereditary AD 202300
ADULT Syndrome AD 103285
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
Age-Related Macular Degeneration 4 610698
Age-Related Macular Degeneration 9 611378
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
Alpha-Thalassemia Myelodysplasia Syndrome 300448
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity 609889
Alzheimer Disease, Type 3 AD 607822
Alzheimer's Disease AD 104300
Aml - Acute Myeloid Leukemia 601626
Anauxetic Dysplasia AR 607095
Anemia Sideroblastic And Spinocerebellar Ataxia XL 301310
Anemia, sideroblastic, 3, pyridoxine-refractory AR 616860
Anemia, sideroblastic, 4 AD 182170
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive AR 205950
Aplastic Anemia 609135
ApoA-I and apoC-III deficiency, combined 618463
Arteriovenous Malformations Of The Brain 108010
Arthrogryposis Multiplex Congenita, Distal, X-Linked XL 301830
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
ATR-X Syndrome XL 301040
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 6 613551
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 AD 617388
Autoinflammation with episodic fever and lymphadenopathy AD 618852
Autoinflammation with Infantile Enterocolitis AD 616050
Autoinflammation, antibody deficiency, and immune dysregulation syndrome AD 614878
Autoinflammation, immune dysregulation, and eosinophilia AD 618999
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 614382
Baller-Gerold Syndrome AR 218600
Baraitser-Winter Syndrome 1 AD 243310
Bare Lymphocyte Syndrome, Type I AR 604571
Basal cell carcinoma 7 AD 614740
Basal Laminar Drusen AD 126700
Bernard Soulier Syndrome AR 231200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant AD 153670
Beta-D-Mannosidosis AR 248510
Bile Acid Malabsorption, Primary AR 613291
Bladder Cancer 109800
Bleeding Disorder, Platelet-Type, 15 AD 615193
Bleeding disorder, platelet-type, 16, autosomal dominant AD 187800
Bleeding Disorder, Platelet-Type, 17 AD 187900
Bleeding Disorder, Platelet-Type, 19 AR 616176
Bleeding Disorder, Platelet-Type, 21 AD 617443
Blood Group, Cromer System AR 613793
Blood Group--Lutheran Inhibitor 111150
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
Bone marrow failure syndrome 4 AR 618116
Bone marrow failure syndrome 5 AD 618165
Breast-Ovarian Cancer, Familial 1 AD 604370
Breast-Ovarian Cancer, Familial 2 AD 612555
Breast-Ovarian Cancer, Familial 3 613399
Breast-Ovarian Cancer, Familial 4 614291
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 613956
Candidiasis, Familial, 7 AD 614162
Candidiasis, familial, 8 AR 615527
Candidiasis, familial, 9 AR 616445
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardiofaciocutaneous syndrome 2 AD 615278
Cardiomyopathy, Dilated, 1U AD 613694
Caspase-8 Deficiency AR 607271
Cd59 Deficiency AR 612300
Cd8 Deficiency, Familial AR 608957
Celiac Disease 3 609755
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
Cerebrotendinous Xanthomatosis AR 213700
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Charcot-Marie-Tooth Disease, Type 4B2 AR 604563
CHARGE Association AD 214800
Chediak-Higashi Syndrome AR 214500
Cherubism AD 118400
Chilblain lupus 2 AD 614415
Chilblain Lupus Erythematosus AD 610448
Choroid Plexus Papilloma AD 260500
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
Chronic Obstructive Pulmonary Disease 606963
Chylomicron Retention Disease AR 246700
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, 21 AR 615294
Ciliary Dyskinesia, Primary, 22 AR 615444
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, 40 AR 618300
Ciliary dyskinesia, primary, 41 AR 618449
Ciliary dyskinesia, primary, 42 AR 618695
Ciliary dyskinesia, primary, 5 AR 608647
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 612444
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features AD 616728
Cohen Syndrome AR 216550
Colorectal cancer, susceptibility to, 10 AD 612591
Colorectal cancer, susceptibility to, 12 AD 615083
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
Combined oxidative phosphorylation deficiency 33 AR 617713
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 612446
Complement Component 7 Deficiency 610102
Complement Component 8 Deficiency Type 1 AR 613790
Complement Component 8 Deficiency Type 2 AR 613789
Complement Component 9 Deficiency 613825
Complement Component c1s Deficiency 613783
Complement factor B deficiency AR 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 1C AR 603147
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
Congenital disorder of glycosylation, type Icc XL 301031
Congenital Glucose-Galactose Malabsorption AR 606824
Congenital Human Immunodeficiency Virus 609423
Congenital Lactase Deficiency AR 223000
Congenital Microvillous Atrophy AR 251850
Congenital Secretory Diarrhea, Chloride Type AR 214700
Congenital Secretory Diarrhea, Sodium Type AR 270420
Conotruncal Heart Malformations 217095
Cowden Disease AD 158350
Cowden syndrome 7 AD 616858
Cutaneous Telangiectasia and Cancer Syndrome, Familial AD 614564
Cyclical Neutropenia AD 162800
Cystic Fibrosis AR 219700
Deafness, Autosomal Dominant 1 AD 124900
Deafness, Autosomal Dominant 17 AD 603622
Deafness, autosomal dominant 34, with or without inflammation AD 617772
Deficiency Of Alpha-Mannosidase AR 248500
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency AD 614172
Diabetes Mellitus, Insulin-Dependent, 10 601942
Diabetes Mellitus, Insulin-Dependent, 12 601388
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 14 with mandibulofacial dysostosis XL 300946
Diamond-Blackfan anemia 16 AD 617408
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
Diarrhea 4, Malabsorptive, Congenital AR 610370
Diarrhea 5, With Tufting Enteropathy, Congenital AR 613217
Diarrhea 6 AD 614616
Diarrhea 7, protein-losing enteropathy type AR 615863
Diarrhea 8, secretory sodium, congenital AR 616868
Digeorge Sequence AD 188400
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin AD 132000
Dyserythropoietic Anemia, Congenital, Type Ia AR 224120
Dyserythropoietic Anemia, Congenital, Type II AR 224100
Dyserythropoietic Anemia, Congenital, Type IV AD 613673
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 AD 616553
Dyskeratosis Congenita, Autosomal Dominant, 2 AD 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
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 AD 604292
Ehlers-Danlos Syndrome, Periodontal Type, 2 AD 617174
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
Endometrial Cancer 608089
Epidermal Nevus 162900
Epidermodysplasia Verruciformis AR 226400
Epidermodysplasia verruciformis 2 AR 618231
Epidermodysplasia verruciformis 3 AR 618267
Epidermolysis Bullosa Pruriginosa AD 604129
Epidermolysis Bullosa, Pretibial AD 131850
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE AR 615508
Esophageal Cancer 133239
Essential Thrombocythemia 187950
Even-plus syndrome AR 616854
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 Colorectal Cancer 114500
Familial Erythrocytosis, 1 133100
Familial Hypercholesterolemia AD 143890
Familial Mediterranean Fever AR 249100
Familial Mediterranean Fever, Autosomal Dominant AD 134610
Familial Non-Hodgkin Lymphoma 605027
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
Fanconi Anemia, Complementation Group R AD 617244
Fanconi Anemia, Complementation Group S AR 617883
Fanconi Anemia, Complementation Group T AR 616435
Fanconi Anemia, Complementation Group U AR 617247
Fanconi Anemia, Complementation Group V AR 617243
Fanconi Anemia, Complementation Group W AR 617784
Farber's Lipogranulomatosis AR 228000
Fetal Hemoglobin Quantitative Trait Locus 6 613566
FILS syndrome AR 615139
Focal Segmental Glomerulosclerosis 4, Susceptibility To 612551
Folate Malabsorption, Hereditary AR 229050
Frontotemporal Dementia AD 600274
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 AD 616439
Gallbladder Disease 4 611465
Gastric Lymphoma 137245
Gastrointestinal defects and immunodeficiency syndrome AR 243150
GATA-1-Related Thrombocytopenia With Dyserythropoiesis XL 300367
Generalized Dominant Dystrophic Epidermolysis Bullosa AD 131750
Glanzmann's Thrombasthenia AR 273800
Glioma Susceptibility 1 137800
Glioma Susceptibility 2 613028
Glioma Susceptibility 3 AR 613029
Glioma Susceptibility 9 AD 616568
Glycogen Storage Disease Type Ia AR 232200
Glycogen Storage Disease Type Ib AR 232220
Glycogen Storage Disease Type Ic AR 232240
Graft-Versus-Host Disease, Susceptibility To 614395
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
Gray Platelet Syndrome AR 139090
Griscelli Syndrome Type 1 AR 214450
Griscelli Syndrome Type 2 AR 607624
Griscelli Syndrome Type 3 AR 609227
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant AD 618985
Growth Hormone Insensitivity With Immunodeficiency AR 245590
Haim-Munk Syndrome AR 245010
Hashimoto Thyroiditis AD 140300
Hay-Wells Syndrome AD 106260
Helicobacter Pylori Infection, Susceptibility To 600263
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 613101
Hemophilia A, Congenital XL 306700
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 AR 616006
Hennekam lymphangiectasia-lymphedema syndrome 3 AR 618154
Hennekam Syndrome AR 235510
Hepatic Venoocclusive Disease With Immunodeficiency AR 235550
Hepatitis B Virus, Susceptibility To 610424
Hepatitis C Virus, Susceptibility To 609532
Hereditary Angioneurotic Edema AD 106100
Hereditary Diffuse Gastric Cancer 137215
Hereditary Factor IX Deficiency Disease XL 306900
Hereditary Factor XI Deficiency Disease 612416
Hereditary Nonpolyposis Colorectal Cancer Type 4 614337
Hereditary Nonpolyposis Colorectal Cancer Type 5 AD 614350
Hereditary Nonpolyposis Colorectal Cancer Type 6 614331
Hereditary Nonpolyposis Colorectal Cancer Type 8 613244
Hereditary Sideroblastic Anemia XL 300751
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 610551
Herpes Simplex Encephalitis 2 AD 613002
Heyn-Sproul-Jackson syndrome AD 618724
Hidradenitis Suppurativa, Familial AD 142690
Histiocytosis-lymphadenopathy plus syndrome AR 602782
Hodgkin Lymphoma AR 236000
Hyper-IgE recurrent infection syndrome 3, autosomal recessive AR 618282
Hyper-IgE recurrent infection syndrome 4, autosomal recessive AR 618523
Hyper-IgE recurrent infection syndrome 5, autosomal recessive AR 618944
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
Hyperuricemic Nephropathy, Familial Juvenile, 4 AD 617056
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency XL 300291
Hypopigmentation, organomegaly, and delayed myelination and development AD 618541
Hypoplastic Left Heart Syndrome 2 AD 614435
Hypoproteinemia, Hypercatabolic AR 241600
Hypothyroidism, Congenital, Nongoitrous, 5 AD 225250
Ige Responsiveness, Atopic AD 147050
IL12RB1 Deficiency AR 614891
IMAGE-I syndrome AR 618336
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 15A AD 618204
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 58 AR 618131
Immunodeficiency 59 and hypoglycemia AR 233600
Immunodeficiency 60 AD 618394
Immunodeficiency 61 XL 300310
Immunodeficiency 62 AR 618459
Immunodeficiency 63 with lymphoproliferation and autoimmunity AR 618495
Immunodeficiency 64 AR 618534
Immunodeficiency 65, susceptibility to viral infections AR 618648
Immunodeficiency 66 AR 618847
Immunodeficiency 7, TCR-alpha/beta deficient AR 615387
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia 618986
Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia 618987
Immunodeficiency 75 AR 619126
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, 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, developmental delay, and hypohomocysteinemia AD 617744
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 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 (Crohn disease) 30 AD 619079
Inflammatory Bowel Disease 1 MF 266600
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
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities AD 618092
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
Juvenile Myelomonocytic Leukemia 607785
Juvenile-Onset Dystonia AD 607371
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 5 AD 612370
Keratoendothelitis fugax hereditaria AD 148200
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma AR 601952
Keratosis Palmoplantaris Striata 1 AD 148700
Kindler's Syndrome AR 173650
Leiner Disease 609536
LEOPARD Syndrome AD 151100
LEOPARD Syndrome 3 AD 613707
Leprechaunism Syndrome AR 246200
Leukemia, acute lymphoblastic, susceptibility to, 3 615545
Leukemia, acute promyelocytic, somatic 102578
Leukocyte Adhesion Deficiency Type 1 AR 116920
Leukocyte Adhesion Deficiency, Type III AR 612840
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism AR 607694
Li-Fraumeni Syndrome AD 151623
Li-Fraumeni Syndrome 2 609265
Lig4 Syndrome AR 606593
Limb-Mammary Syndrome AD 603543
Lipodystrophy, Congenital Generalized, Type 4 AR 613327
Liver Cancer 114550
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Lowry-Wood syndrome AR 226960
Lung Cancer 211980
Lung disease, immunodeficiency, and chromosome breakage syndrome AR 617241
Lymphedema, Hereditary, III AR 616843
Lymphedema, Primary, With Myelodysplasia AD 614038
Lymphoproliferative Syndrome 2 AR 615122
Lymphoproliferative syndrome 3 AR 618261
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 AR 613011
Lymphoproliferative Syndrome, X-Linked, 1 XL 308240
Lymphoproliferative Syndrome, X-Linked, 2 XL 300635
Lynch Syndrome I AD 120435
Lynch Syndrome II 609310
Lysinuric Protein Intolerance AR 222700
Lysosomal Acid Lipase Deficiency AR 278000
Macrocephaly/Autism Syndrome AD 605309
Macroglobulinemia, Waldenstrom, somatic 153600
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related AD 613112
Macular degeneration, age-related, 13, susceptibility to AD 615439
Macular degeneration, age-related, 14, reduced risk of 615489
Macular degeneration, age-related, 15, susceptibility to 615591
Macular Degeneration, X-Linked Atrophic XL 300834
Majeed Syndrome 609628
Malaria, Susceptibility To Malaria, Resistance To, Included 611162
Malignant Mesothelioma 156240
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome AD 615381
Mannose-Binding Protein Deficiency AD 614372
Masp2 Deficiency AR 613791
May-Hegglin Anomaly AD 155100
McLeod Syndrome XL 300842
Meconium ileus AR 614665
Medulloblastoma 155255
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency AR 613839
Melanoma Astrocytoma Syndrome AD 155755
Melanoma, Cutaneous Malignant 2 AD 155601
Melanoma, Cutaneous Malignant, 9 615134
Melanoma, Cutaneous Malignant, Susceptibility to, 10 AD 615848
Melanoma-Pancreatic Cancer Syndrome AD 606719
Meningioma, Familial 607174
Menke-Hennekam syndrome 1 AD 618332
Mental Retardation, Autosomal Dominant 29 AD 616078
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Metachondromatosis AD 156250
Metaphyseal Chondrodysplasia, Mckusick Type AR 250250
Metaphyseal Dysplasia Without Hypotrichosis AR 250460
Mevalonic Aciduria AR 610377
Microvascular Complications Of Diabetes 4 612628
MIRAGE syndrome AD 617053
Mirror movements 2 AD 614508
Mismatch repair cancer syndrome 2 619096
Mismatch repair cancer syndrome 3 619097
Mismatch repair cancer syndrome 4 619101
Monosomy 7 myelodysplasia and leukemia syndrome 1 AD 252270
Monosomy 7 myelodysplasia and leukemia syndrome 2 AD 619041
Mucocutaneous ulceration, chronic AD 618287
Muir-Torre Syndrome AD 158320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Multiple Myeloma 254500
Multiple sclerosis, susceptibility to, 5 614810
Multiple Self Healing Squamous Epithelioma AD 132800
Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive AR 613796
Mycobacterium Tuberculosis, Susceptibility To 607948
Myd88 Deficiency AR 612260
Myelodysplastic Syndrome 614286
Myelofibrosis 254450
Myeloperoxidase Deficiency AR 254600
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to AD 616871
Myocardial Infarction 1 608446
Myopathy, tubular aggregate AD 160565
Myopathy, tubular aggregate, 2 AD 615883
Myopia 6 AD 608908
Nail Disorder, Nonsyndromic Congenital, 8 AD 607523
Nasopharyngeal Carcinoma 607107
Neoplasm Of Stomach 613659
Nephrotic Syndrome, Type 7 AR 615008
Netherton Syndrome AR 256500
Neural Tube Defects, Folate-Sensitive AR 601634
Neurocutaneous melanosis, somatic 249400
Neurofibromatosis, Familial Spinal AD 162210
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis-Noonan Syndrome AD 601321
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults AD 607847
Neutropenia, Severe Congenital, 2, Autosomal Dominant AD 613107
Neutropenia, Severe Congenital, 4, Autosomal Recessive AR 612541
Neutropenia, Severe Congenital, 5, Autosomal Recessive AR 615285
Neutropenia, Severe Congenital, 6, Autosomal Recessive AR 616022
Neutropenia, severe congenital, 7, autosomal recessive AR 617014
Neutropenia, severe congenital, 8, autosomal dominant AD 618752
Neutrophil Immunodeficiency Syndrome AD 608203
Neutrophilic dermatosis, acute febrile AD 608068
Nijmegen Breakage Syndrome AR 251260
Nijmegen Breakage Syndrome-Like Disorder 613078
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To AR 258660
Noonan Syndrome 1 AD 163950
Noonan Syndrome 3 AD 609942
Noonan Syndrome 6 AD 613224
Noonan Syndrome 7 AD 613706
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia AD 613563
Oculoectodermal syndrome, somatic 600268
Omenn Syndrome AR 603554
Oral-Facial-Digital Syndrome XL 311200
Orofacial cleft 8 618149
Osteitis Deformans AD 602080
Osteodysplastic Primordial Dwarfism, Type 1 AR 210710
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
Osteosarcoma 259500
Otofaciocervical syndrome 2 AR 615560
Palmoplantar carcinoma, multiple self-healing AD 615225
Pancreatic Cancer 260350
Pancreatic Cancer 2 613347
Pancreatic Cancer 3 613348
Pancreatic Cancer 4 614320
Pancreatitis, Chronic AD 167800
Papillon-Lefevre Syndrome AR 245000
Parkinson Disease 13 610297
Paroxysmal Nocturnal Hemoglobinuria 300818
Periodic fever, immunodeficiency, and thrombocytopenia syndrome AR 150550
Periodontitis, Aggressive, 1 AR 170650
Pick's Disease AD 172700
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
Porokeratosis, Disseminated Superficial Actinic 1 AD 175900
Premature ovarian failure 15 AR 618096
Premature ovarian failure 17 619146
Prolidase Deficiency AR 170100
Properdin Deficiency, X-Linked XL 312060
Propionic Acidemia AR 606054
Prostate Cancer 176807
Proteasome-associated autoinflammatory syndrome 2 AD 618048
Proteasome-associated autoinflammatory syndrome 3 and digenic forms AR 617591
Protoporphyria, Erythropoietic, X-Linked XL 300752
Pseudo Von Willebrand Disease AD 177820
Pseudo-TORCH syndrome 2 AR 617397
Pseudo-TORCH syndrome 3 AR 618886
Psoriasis 15, pustular, susceptibility to AD 616106
Psoriasis Susceptibility 13 614070
Psoriasis susceptibility 2 AD 602723
Psoriasis Susceptibility 7 605606
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 AD 614742
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 AD 614743
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 AD 616373
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 AD 616371
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 AD 618674
Purine Nucleoside Phosphorylase Deficiency AR 613179
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne AD 604416
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia AD 605432
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 AD 616738
Rapadilino Syndrome AR 266280
Rapp-Hodgkin Ectodermal Dysplasia Syndrome AD 129400
RAS-Associated Autoimmune Leukoproliferative Disorder 614470
Recessive Dystrophic Epidermolysis Bullosa AR 226600
Respiratory papillomatosis, juvenile recurrent, congenital AR 618803
Reticular Dysgenesis AR 267500
Retinitis Pigmentosa 15 300029
Retinitis Pigmentosa 23 XL 300424
Retinitis Pigmentosa and Erythrocytic Microcytosis AR 616959
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 300455
Revesz Syndrome AD 268130
Rheumatoid Arthritis 180300
Riddle Syndrome AR 611943
Roifman syndrome AR 616651
Rothmund-Thomson Syndrome AR 268400
Rubinstein-Taybi Syndrome AD 180849
Schimke Immunoosseous Dysplasia AR 242900
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schinzel-Giedion Midface Retraction Syndrome AD 269150
SCID Due To Absent Class II HLA Antigens AR 209920
SCID, autosomal recessive, T-negative/B-positive type AR 600802
Seckel Syndrome AR 210600
Seizures, Cortical Blindness, Microcephaly Syndrome AR 616632
Serum Level Of Adiponectin 1 612556
Severe Combined Immunodeficiency Due To Ada Deficiency AR 102700
Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation 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
Short stature, Optic nerve atrophy, and Pelger-Huet anomaly AR 614800
SHORT syndrome AD 269880
Shwachman Syndrome AR 260400
Shwachman-Diamond syndrome 2 AR 617941
Sideroblastic Anemia And Mitochondrial Myopathy AR 600462
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay AR 616084
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Singleton-Merten Syndrome 1 AD 182250
Singleton-Merten syndrome 2 AD 616298
Sitosterolemia AR 210250
Sitosterolemia 2 AR 618666
Sneddon syndrome AR 182410
Spasticity, childhood-onset, with hyperglycinemia AR 616859
Specific Granule Deficiency AR 245480
Specific Granule Deficiency 2 AR 617475
Spermatogenic failure 619145
Spermatogenic failure 18 AR 617576
Spermatogenic failure 28 AR 618086
Spinal muscular atrophy with progressive myoclonic epilepsy AR 159950
Spinocerebellar ataxia, autosomal recessive 7 AR 609270
Spitz nevus or nevus spilus, somatic 137550
Split-Hand/Foot Malformation 4 AD 605289
Spondyloenchondrodysplasia With Immune Dysregulation AR 607944
Spondyloepimetaphyseal dysplasia, sponastrime type AR 271510
Stormorken syndrome AD 185070
Stromme syndrome AR 243605
Sucrase-Isomaltase Deficiency AR 222900
Surfactant Metabolism Dysfunction, Pulmonary, 4 300770
Surfactant Metabolism Dysfunction, Pulmonary, 5 AR 614370
Symmetrical Dyschromatosis Of Extremities AD 127400
Systemic Lupus Erythematosus AD 152700
Systemic Lupus Erythematosus 11 612253
Systemic lupus erythematosus 16 AR 614420
Systemic Lupus Erythematosus 9 610927
T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy AR 601705
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations 614868
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 618806
Takenouchi-Kosaki syndrome AD 616737
Tatton-Brown-Rahman Syndrome AD 615879
Testicular Cancer 273300
Thiamine Responsive Megaloblastic Anemia Syndrome AR 249270
Thrombocythemia 2 AD 601977
Thrombocythemia 3 AD 614521
Thrombocytopenia 2 AD 188000
Thrombocytopenia 4 AD 612004
Thrombocytopenia 5 AD 616216
Thrombocytopenia, anemia, and myelofibrosis AR 617441
Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia AD 601399
Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis XL 314050
Thrombocytopenia, X-Linked XL 313900
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 Due to Thrombomodulin Defect 614486
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 XL 300807
Thrombosis, Susceptibility To AD 188050
Thrombotic Thrombocytopenic Purpura AR 274150
Thyroid Cancer, Follicular 188470
Thyroid Dyshormonogenesis 6 AR 607200
Tnf Receptor-Associated Periodic Fever Syndrome (Traps) AD 142680
Transcobalamin II Deficiency AR 275350
Transient Bullous Dermolysis Of The Newborn AD 131705
Trichohepatoenteric syndrome 1 AR 222470
Trichohepatoenteric syndrome 2 AR 614602
Trichothiodystrophy 2, photosensitive AR 616390
Trichothiodystrophy 3, photosensitive 616395
Trichothiodystrophy 5, nonphotosensitive XL 300953
Trichothiodystrophy 6, nonphotosensitive AR 616943
Trichothiodystrophy Photosensitive AR 601675
Trichothiodystrophy, Nonphotosensitive 1 AR 234050
Tumoral Calcinosis, Normophosphatemic, Familial AR 610455
Turcot Syndrome AR 276300
Tyrosine Kinase 2 Deficiency AR 611521
Van Esch-O'Driscoll syndrome XL 301030
Van Maldergem Syndrome 2 AR 615546
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
Velocardiofacial Syndrome AD 192430
Ventricular Septal Defect 3 AD 614432
VEXAS syndrome, somatic 301054
Vici Syndrome AR 242840
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 606579
Warsaw Breakage Syndrome AR 613398
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis AD 193670
Watson Syndrome AD 193520
Wiedemann-Rautenstrauch syndrome AR 264090
Wiedemann-Steiner Syndrome AD 605130
Wilms' Tumor 194070
Wiskott-Aldrich Syndrome XL 301000
Wiskott-Aldrich Syndrome 2 AR 614493
Wolcott-Rallison Dysplasia AR 226980
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
Xerocytosis, Hereditary AD 194380
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
Yao syndrome MF 617321
[Eculizumab, poor response to] AD 615749
[Interleukin 6, serum level of, QTL] 614752
[Interleukin-6 receptor, soluble, serum level of, QTL] 614689
[Skin/hair/eye pigmentation, variation in, 8] 611724
{?Epidermodysplasia verruciformis, susceptibility to, 4} AR 618307
{Pregnancy loss, recurrent, susceptibility to, 1} AD 614389
{Warfarin sensitivity} XL 301052

Related Test

Name
PGxome®

Citations

  • Bousfiha et al. 2020. PubMed ID: 32048120
  • Filipovich et al. 1992. PubMed ID: 1327508
  • Griffith et al. 2016. PubMed ID: 27262745
  • Herber et al. 2020. PubMed ID: 31580160
  • Mayor et al. 2018. PubMed ID: 28606585
  • Nijland et al. 2018. PubMed ID: 29269521
  • Picard et al. 2018. PubMed ID: 29226302
  • Riaz et al. 2019. PubMed ID: 31057537
  • Tangye et al. 2020. PubMed ID: 31953710
  • Vajdic et al. 2010. PubMed ID: 20466855

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