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They are the result of the inability of the immune system to effectively fight an infection by bacteria, viruses, fungi, and cancer cells. As a result, unusual bacterial, viral, or fungal infections or lymphomas or other cancers may develop.
Primary immunodeficiencies are usually present at birth, while most become evident
during infancy or childhood, others are not recognized until adulthood.
There are more than 100 rare primary immunodeficiency disorders.
Those are classified by affected component of the immune system: humoral immunity (involvement of B cells, a type of white blood cell that produces antibodies), cellular immunity (involvement of T cells, a type of white blood cell that helps identify and destroy foreign or abnormal cells), both humoral and cellular immunity (B cells and T cells) and phagocytes (cells that ingest and kill microorganisms). Alterations in B cells account for more than 50% of primary immunodeficiency disorders.
We offer comprehensive and syndrome-specific panels testing immunodeficiency disorders. The test can offer a molecular genetic diagnosis of an immunodeficiency disorder that is observed or predicted in your child or a family member.
These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Autoimmune diseases a major health issue, affecting up to approximately 10% of the population.
Common human autoimmune diseases are complex disorders that arise from the
interactions between polygenic risk factors and environmental factors.
Intensive investigation of autoimmune disease genetics has the potential to offer an unbiased view of the underlying etiologies of these conditions and, perhaps, identify therapeutic targets.
Early identification of individuals at risk can help establish the right clinical management
plan.
Individuals with Symptoms of an immune disorder include:
Early identification of individuals at risk can help establish the right clinical management
plan.
We offer comprehensive and syndrome-specific panels testing immunodeficiency disorders, autoimmune disorders, inflammatory and other immune disorders.
Please reach us at contact@genatechs.com if you cannot find an answer to your question.
ACP5, ACTB, ADA, AGA, AICDA, AIRE, AK2, ALG13, AP3B1, AP4E1, APOL1, ATM,
B2M, BLM, BLNK, BLOC1S3, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2,
C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, CARD11, CARD9, CASP10, CASP8, CD19,
CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A,
CD79B, CD81, CD8A, CEBPE, CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, CFP,
CHD7, CIITA, CLEC7A, COLEC11, CORO1A, CR2, CREBBP, CSF2RA, CSF3R,
CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DHFR, DKC1, DNMT3B, DOCK8, DTNBP1,
ELANE, EPG5, ERCC2, ERCC3, F12, FADD, FAS, FASLG, FCGR1A, FCGR3A, FCN3,
FERMT3, FOXN1, FOXP3, G6PC, G6PC3, G6PD, GATA2, GFI1, GJC2, GTF2H5,
HAX1, HPS1, HPS3, HPS4, HPS5, HPS6, ICOS, IFNGR1, IFNGR2, IGHG2, IGHM,
IGKC, IGLL1, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL1RN,
IL2, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, INSR, IRAK4, IRF8, ITCH, ITGB2, ITK,
JAK2, JAK3, KMT2D, KRAS, LAMTOR2, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC8A,
LYST, MAGT1, MALT1, MAN2B1, MANBA, MASP1, MASP2, MBL2, MC2R, MCM4,
MEFV, MLPH, MPO, MRE11A, MS4A1, MSH6, MTHFD1, MVK, MYD88, MYO5A, NBN,
NCF1, NCF2, NCF4, NCSTN, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5,
NLRP12, NLRP3, NOD2, NOP10, NRAS, ORAI1, PCCA, PCCB, PEPD, PGM3, PIGA,
PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, PRF1, PRKCD, PRKDC, PRPS1,
PSENEN, PSMB8, PSTPIP1, PTPN11, PTPRC, PTRF, RAB27A, RAC2, RAG1, RAG2,
RASGRP2, RBCK1, RECQL4, RFX5, RFXANK, RFXAP, RNASEH2A, RNASEH2B,
RNASEH2C, RNF168, RORC, RPSA, RTEL1, SAMHD1, SBDS, SERAC1, SERPING1,
SH2D1A, SKIV2L, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SMARCAL1,
SP110, SPINK5, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STX11,
STXBP2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCIRG1, TCN2, TERT, TFRC, THBD,
TICAM1, TINF2, TLR3, TMC6, TMC8, TNFRSF11A, TNFRSF13B, TNFRSF13C,
TNFRSF1A, TNFRSF4, TRAC, TRAF3, TREX1, TTC37, TYK2, UNC119, UNC13D,
UNC93B1, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, ZAP70,
ZBTB24
ADA, AK2, CD3D, CD3E, CIITA, DCLRE1C, IL2, IL21R, IL2RG, IL7R, JAK3, NHEJ1,
PNP, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, TAP1, TAPBP
CLPB, AP3B1, CSF3R, CXCR2, CXCR4, EIF2AK3, ELANE, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LAMTOR2, SBDS, SLC37A4, SMARCD2, STK4, TAZ, TCIRG1, TCN2, USB1, VPS13B, VPS45, WAS
Single Gene
Single Gene
Single Gene
To be announced..
ACP5, ADAM17, ADAR, AP1S3, CARD14, CD40LG, CECR1, COPA, DNASE2, EMR2, FAM105B, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LACC1, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, PLCG2, POLA1, POMP, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, RBCK1, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, SAMHD1, SCYL1, SH3BP2, SHARPIN, SLC29A3, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TREX1, TRNT1, USP18, WDR1
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Leukocyte adhesion deficiency (ITGB2) gene sequencing
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
16 STR loci present on different chromosomes are evaluated from patients and donor before transplant and monitor the presence or absence in patient post transplant. Fragment analysis
Single Gene
To be announced
To be announced
Single Gene
HLA-B* locus is evaluated to identify the HLA-B 1502 variation which is linked to Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) complications in patients receiving Carbamazepine.
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
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