Behcet Syndrome

Description

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Behcet Syndrome

  • Seizures
  • Ataxia
  • Cataract
  • Hyperreflexia
  • Splenomegaly
  • Gait disturbance
  • Fever
  • Blindness
  • Renal insufficiency
  • Behavioral abnormality
And another 68 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Behcet Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
7 %
Acatalasemia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

CAT
Specificity
100 %
Genes
4 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

TRIM37, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, PHYH, AGPS, SCP2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
CAT.

By Fulgent Genetics Fulgent Genetics in United States.

CAT
Specificity
100 %
Genes
4 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

AGXT2, FAR1, PEX11B, TRIM37, GNPAT, GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
4 %
Neutrophil Antigen Genotyping Panel (includes HNA-1, 3, 4, 5).

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

CD177, SLC44A2, ITGAL, FCGR3B, ITGAM
Specificity
20 %
Genes
4 %
ITGAL.

By Fulgent Genetics Fulgent Genetics in United States.

ITGAL
Specificity
100 %
Genes
4 %
ITGB2 Gene Sequencing.

By GeneDx in United States.

ITGB2
Specificity
100 %
Genes
4 %
ITGB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ITGB2
Specificity
100 %
Genes
4 %
Leukocyte adhesion deficiency (sequence analysis of ITGB2 gene).

By CGC Genetics in Portugal.

ITGB2
Specificity
100 %
Genes
4 %
CD18 gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

ITGB2
Specificity
100 %
Genes
4 %
Leukocyte adhesion deficiency.

By Centogene AG - the Rare Disease Company in Germany.

ITGB2
Specificity
100 %
Genes
4 %
Complement deficiencies Panel.

By CeGaT GmbH in Germany.

MASP2, C8G, C8A, C8B, C6, C4A, C9, CD59, C5, C4B, COLEC11, CFP, ITGB2, C1QB, C1QA, C1QC, SERPING1, C2, CFD, FCN3 , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
7 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

FPR1, FCGR3B, MPO, ACKR1, IRF8, CEBPE, ITGB2, NCF1, ISG15, IL12B, JAGN1, IL12RB1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
4 %
Leukocyte adhesion deficiency type 1.

By Praxis fuer Humangenetik Wien in Austria.

ITGB2
Specificity
100 %
Genes
4 %
Leukocyte adhesion deficiency type 1.

By MedGene in Slovakia.

ITGB2
Specificity
100 %
Genes
4 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

NFAT5, ADAM17, CD3G, IL21, ITGB2, PLCG2, IL10, IL2RA, IL10RB, ICOS, PIK3R1, TTC7A, NLRC4, IL10RA, CTLA4, LRBA, PIK3CD, LIG4, G6PC3, STXBP2 , (...)

View the complete list with 26 more genes
Specificity
7 %
Genes
11 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

IRF7, RORC, DCLRE1B, DOCK2, MAP3K14, NFAT5, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, FPR1, SP110, TNFSF12, IKBKB, LCK, CTPS1, ZBTB24, ADAM17, BCL10 , (...)

View the complete list with 187 more genes
Specificity
4 %
Genes
28 %
Invitae Phagocyte Defects Panel.

By Invitae in United States.

FPR1, CEBPE, ITGB2, SPINK5, CLPB, JAGN1, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, FERMT3, NCF4, NCF2, CSF2RA, CTSC, VPS13B, WAS, CYBB , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
4 %
ITGB2.

By Fulgent Genetics Fulgent Genetics in United States.

ITGB2
Specificity
100 %
Genes
4 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...)

View the complete list with 255 more genes
Specificity
3 %
Genes
28 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
4 %
Leukocyte adhesion deficiency type I.

By Bioarray in Spain.

ITGB2
Specificity
100 %
Genes
4 %
Leukocyte Adhesion Deficiency Type 1, Sequencing ITGB2 Gene.

By Reference Laboratory Genetics in Spain.

ITGB2
Specificity
100 %
Genes
4 %
FAS Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FAS
Specificity
100 %
Genes
4 %
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
12 %
Genes
4 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
12 %
Genes
4 %
FAS Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FAS
Specificity
100 %
Genes
4 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

CARD11, CTLA4, CD27, PIK3CD, ITK, STXBP2, CASP10, FASLG, FAS, TNFRSF13B, IKZF1, SH2D1A, DOCK8, MAGT1, NF1, WAS, PRF1, NBN, ATM, BLM , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
4 %
FAS (TNFRSF6) Gene Sequencing.

By GeneDx in United States.

FAS
Specificity
100 %
Genes
4 %
FAS. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FAS
Specificity
100 %
Genes
4 %
Autoimmune lymphoproliferative syndrome (sequence analysis of FAS gene).

By CGC Genetics in Portugal.

FAS
Specificity
100 %
Genes
4 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FAS gene).

By CGC Genetics in Portugal.

FAS
Specificity
100 %
Genes
4 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FAS gene).

By CGC Genetics in Portugal.

FAS
Specificity
100 %
Genes
4 %
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FAS
Specificity
100 %
Genes
4 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRKCD, CTLA4, FADD, LRBA, PIK3CD, ITK, CASP10, FASLG, XIAP, FAS, SH2D1A, MAGT1, NRAS, KRAS, STAT3, CASP8
Specificity
7 %
Genes
4 %
FAS.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

FAS
Specificity
100 %
Genes
4 %
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ITCH, IL2RA, FADD, LRBA, CASP10, FASLG, FAS, FOXP3, NRAS, KRAS, AIRE, CASP8
Specificity
9 %
Genes
4 %
Autoimmune lymphoproliferative syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FAS
Specificity
100 %
Genes
4 %
Single gene testing FAS.

By CeGaT GmbH in Germany.

FAS
Specificity
100 %
Genes
4 %
Immune dysregulation Panel.

By CeGaT GmbH in Germany.

AOAH, FCGR2B, ITCH, IL2RA, CARD11, PRKCD, STXBP2, CASP10, FASLG, XIAP, STX11, FAS, UNC13D, RAB27A, SH2D1A, LYST, FOXP3, TREX1, PRF1, AIRE , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
4 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

NFAT5, TNFSF12, ITCH, IL21R, IL21, PLCG2, ACP5, IL10, IL2RA, TMEM173, PRKCD, ADA2, TNFRSF13C, IL10RB, ICOS, CR2, TPP2, PIK3R1, IL10RA, CTLA4 , (...)

View the complete list with 53 more genes
Specificity
5 %
Genes
11 %
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel.

By Invitae in United States.

PRKCD, CTLA4, PIK3CD, ITK, FASLG, FAS, MAGT1, CASP8
Specificity
13 %
Genes
4 %
FAS.

By Fulgent Genetics Fulgent Genetics in United States.

FAS
Specificity
100 %
Genes
4 %
Hemophagocytic Lymphohistiocytosis Panel.

By Blueprint Genetics in Finland.

FADD, ITK, STXBP2, FASLG, XIAP, STX11, FAS, UNC13D, RAB27A, MYO5A, SH2D1A, LYST, MAGT1, PRF1, RECQL4
Specificity
7 %
Genes
4 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
4 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
4 %
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

FAS
Specificity
100 %
Genes
4 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
4 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
4 %
Autoimmune lymphoproliferative syndrome type 1A.

By Bioarray in Spain.

FAS
Specificity
100 %
Genes
4 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
7 %
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

FAS
Specificity
100 %
Genes
4 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
7 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
7 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
4 %
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE.

By Laboratorio de Genetica Clinica SL in Spain.

CASP10, FASLG, FAS, NRAS, CASP8
Specificity
20 %
Genes
4 %
Autoimmune Lymphoproliferative Syndrome Type IA, Sequencing FAS Gene.

By Reference Laboratory Genetics in Spain.

FAS
Specificity
100 %
Genes
4 %
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CTLA4, FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
10 %
Genes
4 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
14 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
28 %
CXCL8.

By Fulgent Genetics Fulgent Genetics in United States.

CXCL8
Specificity
100 %
Genes
4 %
High HDL.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

APOA1, SCARB1, CETP
Specificity
34 %
Genes
4 %
Low HDL Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABCA1, LCAT, ABCG1, APOA1, SCARB1
Specificity
20 %
Genes
4 %
APOA1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

APOA1
Specificity
100 %
Genes
4 %
Amyloidosis due to deposits of apolipoprotein AI.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

APOA1
Specificity
100 %
Genes
4 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

SAR1B, MYLIP, STAP1, LIPG, CYP7A1, SLCO1B1, LIPC, APOC3, ABCA1, LCAT, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
7 %
Amyloidosis (sequence analysis of APOA1 gene).

By CGC Genetics in Portugal.

APOA1
Specificity
100 %
Genes
4 %
Amyloidosis (sequence analysis of APOA1 gene).

By CGC Genetics in Portugal.

APOA1
Specificity
100 %
Genes
4 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

OSMR, IL31RA, LYZ, CST3, B2M, APOA2, TACSTD2, F10, TNFRSF1A, FGA, APOA1, PRNP, MEFV, NLRP3, GSN, RET, TGFBI, APP, TTR
Specificity
16 %
Genes
11 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

OSMR, IL31RA, LYZ, CST3, B2M, APOA2, TACSTD2, F10, TNFRSF1A, FGA, APOA1, PRNP, MEFV, NLRP3, GSN, RET, TGFBI, APP, TTR
Specificity
16 %
Genes
11 %
AMYLOIDOSIS, FAMILIAL VISCERAL.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LYZ, APOA2, FGA, APOA1
Specificity
25 %
Genes
4 %
Familial High Density Lipoprotein Deficiency.

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway.

ABCA1, APOA1
Specificity
50 %
Genes
4 %
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APOA1
Specificity
100 %
Genes
4 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
7 %
Hereditary Amyloidosis, gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

LYZ, B2M, APOA2, FGA, APOA1, GSN, TTR
Specificity
15 %
Genes
4 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

LYZ, B2M, POT1, FGA, APOA1, BAP1, MITF, RYR1, CACNA1S, MET, FLCN, SDHD, CDKN2A, CDK4, TSC1, TSC2, SDHA, GSN, SDHB, FH , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
4 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
11 %
Single gene testing APOA1.

By CeGaT GmbH in Germany.

APOA1
Specificity
100 %
Genes
4 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
7 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4 , (...)

View the complete list with 64 more genes
Specificity
3 %
Genes
7 %
Hypolipidemias.

By Health in Code in Spain.

SAR1B, MYLIP, APOC3, ABCA1, LCAT, ABCG1, ANGPTL3, APOB, PCSK9, APOA1, MTTP
Specificity
19 %
Genes
7 %
APOA1 Gene, Full Gene Analysis.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

APOA1
Specificity
100 %
Genes
4 %
Familial Cardiomyopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
4 %
APOA1.

By Fulgent Genetics Fulgent Genetics in United States.

APOA1
Specificity
100 %
Genes
4 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
2 %
Genes
11 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
4 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
4 %
Hyperlipidemia Panel.

By Blueprint Genetics in Finland.

CREB3L3, APOC3, ABCA1, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, ABCG8, ABCG5, APOE, LIPA, LDLR, ALMS1
Specificity
12 %
Genes
7 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
4 %
Hypertrophic Cardiomyopathy (HCM) Panel.

By Blueprint Genetics in Finland.

ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
4 %
AMYLOIDOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

LYZ, APOA2, FGA, APOA1, TTR
Specificity
20 %
Genes
4 %
Visceral Hereditary Amyloidosis, Sequencing APOA1 Gene.

By Reference Laboratory Genetics in Spain.

APOA1
Specificity
100 %
Genes
4 %
Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

OSMR, IL31RA, LYZ, B2M, FGA, APOA1, GSN, TTR
Specificity
13 %
Genes
4 %
Hypercholesterolemia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Hypolipidemia and Hypocholesterolemia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ANGPTL3, APOB, PCSK9, MTTP
Specificity
25 %
Genes
4 %
APOB (R3500Q/R3500W) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

APOB
Specificity
100 %
Genes
4 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
7 %
APOB.

By Institute for Human Genetics University Clinic Freiburg in Germany.

APOB
Specificity
100 %
Genes
4 %
Familial hypercholesterolemia.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
FHNext.

By Ambry Genetics in United States.

SLCO1B1, APOB, LDLRAP1, PCSK9, LDLR
Specificity
20 %
Genes
4 %
APOB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

APOB
Specificity
100 %
Genes
4 %
APOB. Detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

APOB
Specificity
100 %
Genes
4 %
APOB. Detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

APOB
Specificity
100 %
Genes
4 %
APOB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

APOB
Specificity
100 %
Genes
4 %
APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Congenital Diarrhea Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
4 %
Congenital Diarrhea Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
4 %
Congenital Diarrhea Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
4 %
Hypobetalipoproteinemia, familial (sequence analysis of APOB gene).

By CGC Genetics in Portugal.

APOB
Specificity
100 %
Genes
4 %
Hypercholesterolemia (frequent mutations of APOB gene).

By CGC Genetics in Portugal.

APOB
Specificity
100 %
Genes
4 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics in Portugal.

LRP6, ITIH4, EPHX2, PPP1R17, APOA2, ABCA1, APOB, LDLRAP1, PCSK9, ABCG8, ABCG5, GHR, LIPA, LDLR, APTX
Specificity
7 %
Genes
4 %
Hypercholesterolemia, familial (NGS panel for 3 genes).

By CGC Genetics in Portugal.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
Hypercholesterolemia, autosomal dominant, type B.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APOB
Specificity
100 %
Genes
4 %
Familial hypercholesterolemia.

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Familial Hypercholesterolemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene.

By PreventionGenetics PreventionGenetics in United States.

APOB
Specificity
100 %
Genes
4 %
Familial Hypercholesterolemia Type B.

By MGZ Medical Genetics Center in Germany.

APOB, LDLR
Specificity
50 %
Genes
4 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
4 %
Familial Hypercholesterolemia Type B.

By Bioscientia GmbH Center for Human Genetics in Germany.

APOB
Specificity
100 %
Genes
4 %
Hypobetalipoproteinemia type 1.

By Centogene AG - the Rare Disease Company in Germany.

APOB
Specificity
100 %
Genes
4 %
Hypobetalipoproteinemia type 1.

By Centogene AG - the Rare Disease Company in Germany.

APOB
Specificity
100 %
Genes
4 %
Hypercholesterolemia type B autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

APOB
Specificity
100 %
Genes
4 %
Familial Hypercholesterolemia Type B.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

APOB
Specificity
100 %
Genes
4 %
Hypercholesterolemia, familial, APOB.

By GGA - Galil Genetic Analysis in Israel.

APOB
Specificity
100 %
Genes
4 %
Familial Hypercholesterolemia Type B (APOB, FDB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

APOB
Specificity
100 %
Genes
4 %
Familial Hypercholesterolemia.

By Asper Biogene Asper Biogene LLC in Estonia.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Familial hypercholesterolemia.

By Health in Code in Spain.

APOB, LDLR
Specificity
50 %
Genes
4 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
4 %
Familial hypercholesterolemia Basic Panel.

By Health in Code in Spain.

SLCO1B1, APOB, LDLRAP1, PCSK9, APOE, LDLR
Specificity
17 %
Genes
4 %
Familial hypercholesterolemia Extended Panel.

By Health in Code in Spain.

CH25H, PPARA, LPA, SLC22A8, CYP3A5, CYP3A4, SLCO1B1, APOB, LDLRAP1, PCSK9, NPC1L1, CYP2D6, ABCG8, ABCG5, AMPD1, ABCB1, RYR1, APOE, LIPA, LDLR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
4 %
Familial Hypercholesterolaemia Genetic Screen.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA in Australia.

STAP1, APOB, LDLRAP1, PCSK9, ABCG8, ABCG5, APOE, LIPA, LDLR
Specificity
12 %
Genes
4 %
Familial hypercholesterolemia (APOB, LDLR, PCSK9).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
Hypercholesterolemia, due to ligand-defective apo B.

By Praxis fuer Humangenetik Wien in Austria.

APOB
Specificity
100 %
Genes
4 %
Hypercholesterolemia, due to ligand-defective apo B.

By MedGene in Slovakia.

APOB
Specificity
100 %
Genes
4 %
Invitae Familial Hypercholesterolemia Panel.

By Invitae in United States.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
APOB: APOB gene mutation analysis (p.Arg3500Gln).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APOB
Specificity
100 %
Genes
4 %
APOB: APOB gene mutations analysis (p.Arg3500Gln, p.Arg3500Trp, p.His3543Tyr).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APOB
Specificity
100 %
Genes
4 %
APOB: APOB gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APOB
Specificity
100 %
Genes
4 %
Hypercholesterolemia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Hypobetalipoproteinemia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ANGPTL3, APOB, PCSK9, MTTP
Specificity
25 %
Genes
4 %
Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

PON2, APOC3, APOA2, ABCA1, APOB, PCSK9, LDLR
Specificity
15 %
Genes
4 %
Familial Hypercholesterolemia Profile.

By Integrated Genetics Westborough Integrated Genetics in United States.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
4 %
APOB.

By Fulgent Genetics Fulgent Genetics in United States.

APOB
Specificity
100 %
Genes
4 %
Familial Hypercholesterolemia (FH) Panel.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
Familial Hypercholesterolemia (FH), Single Site.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
Hyperlipidemia Core Panel.

By Blueprint Genetics in Finland.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Genetic Study of Familial Hypercholesterolemia.

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

STAP1, APOB, LDLRAP1, PCSK9, APOE, LDLR
Specificity
17 %
Genes
4 %
Familial hypobetalipoproteinemia.

By Bioarray in Spain.

APOB
Specificity
100 %
Genes
4 %
Familial hypercholesterolemia type B.

By Bioarray in Spain.

APOB
Specificity
100 %
Genes
4 %
Familial Hypercholesterolemia NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
APOB Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

APOB
Specificity
100 %
Genes
4 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
4 %
Familial Hypercholesterolemia.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Familial Hypercholesterolemia.

By Color Genomics, Inc. Color Genomics, Inc. in United States.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
FAMILIAL HYPERCHOLESTEROLEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

APOB, PCSK9, LDLR
Specificity
34 %
Genes
4 %
FAMILIAL HYPOBETALIPOPROTEINEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

ANGPTL3, APOB, PCSK9, MTTP
Specificity
25 %
Genes
4 %
ABETALIPOPROTEINEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

APOB, MTTP
Specificity
50 %
Genes
4 %
Apolipoprotein B Deficiency, Sequencing APOB Gene.

By Reference Laboratory Genetics in Spain.

APOB
Specificity
100 %
Genes
4 %
Apolipoprotein B Deficiency , Mutations (p.Arg3500Gln,p.Arg3500Trp,p.His3543Tyr) APOB Gene.

By Reference Laboratory Genetics in Spain.

APOB
Specificity
100 %
Genes
4 %
Apolipoprotein B Deficiency, Mutation (p.Arg3500Gln) APOB Gene.

By Reference Laboratory Genetics in Spain.

APOB
Specificity
100 %
Genes
4 %
Familial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

ANGPTL3, APOB, PCSK9, MTTP
Specificity
25 %
Genes
4 %
Hypercholesterolemia, autosomal dominant, type B.

By Labor Dr. Wisplinghoff in Germany.

APOB
Specificity
100 %
Genes
4 %
Phosphorus Familial Hypercholesterolemia Panel.

By Phosphorus Diagnostics LLC in United States.

APOB, LDLRAP1, PCSK9, LDLR
Specificity
25 %
Genes
4 %
IL10.

By Institute for Human Genetics University Clinic Freiburg in Germany.

IL10
Specificity
100 %
Genes
4 %
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PLCG2, IL10, NLRP7, IL1RN, PSENEN, NCSTN, IL36RN, NLRP12, PSTPIP1, IL10RB, IL10RA, TNFRSF1A, LPIN2, NOD2, SH3BP2, MEFV, PSMB8, MVK, NLRP3
Specificity
27 %
Genes
18 %
Autoinflammatory diseases Panel.

By CeGaT GmbH in Germany.

PLCG2, RBCK1, IL10, IL1RN, CARD14, IL36RN, NLRP12, PSTPIP1, IL10RB, IL10RA, TNFRSF1A, LPIN2, SLC29A3, NOD2, SH3BP2, MEFV, PSMB8, MVK, NLRP3, HFE
Specificity
25 %
Genes
18 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NFAT5, ADAM17, COPA, PLCG2, RBCK1, IL10, IL1RN, CARD14, IL36RN, TRNT1, NLRP12, PSTPIP1, ADA2, IL10RB, NLRC4, IL10RA, TNFRSF1A, LPIN2, ELANE, SLC29A3 , (...)

View the complete list with 6 more genes
Specificity
24 %
Genes
21 %
IL10.

By Fulgent Genetics Fulgent Genetics in United States.

IL10
Specificity
100 %
Genes
4 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

SLC10A2, ADAM17, IL21, SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, SLC5A1, LCT, SAR1B, IL10, IL10RB, SKIV2L, TTC7A, TTC37, SI, IL10RA , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
4 %
Immune Report Card.

By OmniSeq, Inc. in United States.

LAG3, ICOSLG, ENTPD1-AS1, GATA3-AS1, ADORA2A, TNFRSF18, TNFRSF14, TNFRSF9, HAVCR2, GZMB, IDO1, KLRD1, BTLA, VSIR, CXCL10, CXCR6, PDCD1LG2, CD38, CD68, CCR2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
4 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

PTGER4, IRGM, IL23R, FUT2, ATG16L1, ADAM17, IL6, IL17RA, IL21R, IL21, GUCY2C, MYO5B, NCF1, PLCG2, IL10, IL2RA, IL10RB, ICOS, CARD9, IL17F , (...)

View the complete list with 25 more genes
Specificity
7 %
Genes
11 %
TFCP2L1.

By Fulgent Genetics Fulgent Genetics in United States.

TFCP2L1
Specificity
100 %
Genes
4 %
PSTPIP1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PSTPIP1
Specificity
100 %
Genes
4 %
PSTPIP1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PSTPIP1
Specificity
100 %
Genes
4 %
Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3
Specificity
43 %
Genes
11 %
PSTPIP1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PSTPIP1
Specificity
100 %
Genes
4 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (sequence analysis of PSTPIP1 gene).

By CGC Genetics in Portugal.

PSTPIP1
Specificity
100 %
Genes
4 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNFAIP3, CARD14, IL36RN, NLRP12, PSTPIP1, TNFRSF1A, LPIN2, ELANE, NOD2, MEFV, PSMB8, MVK, NLRP3
Specificity
31 %
Genes
14 %
PAPA.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PSTPIP1
Specificity
100 %
Genes
4 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne.

By Centogene AG - the Rare Disease Company in Germany.

PSTPIP1
Specificity
100 %
Genes
4 %
Single gene testing PSTPIP1.

By CeGaT GmbH in Germany.

PSTPIP1
Specificity
100 %
Genes
4 %
Invitae Periodic Fever Syndromes Panel.

By Invitae in United States.

TRNT1, NLRP12, PSTPIP1, ADA2, NLRC4, TNFRSF1A, LPIN2, ELANE, MEFV, PSMB8, MVK, NLRP3
Specificity
34 %
Genes
14 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Syndrome: PSTPIP1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PSTPIP1
Specificity
100 %
Genes
4 %
Periodic fever syndromes.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3
Specificity
43 %
Genes
11 %
Hereditary Periodic Fever Syndromes: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3
Specificity
43 %
Genes
11 %
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3
Specificity
43 %
Genes
11 %
Periodic Fevers Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3
Specificity
43 %
Genes
11 %
PSTPIP1.

By Fulgent Genetics Fulgent Genetics in United States.

PSTPIP1
Specificity
100 %
Genes
4 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

OTULIN, PLCG2, ACP5, DDX58, IL1RN, PSENEN, TNFAIP3, NLRP1, CARD14, IL36RN, TRNT1, TMEM173, NLRP12, PSTPIP1, ISG15, NLRC4, TNFRSF1A, LPIN2, ELANE, SLC29A3 , (...)

View the complete list with 12 more genes
Specificity
13 %
Genes
14 %
Pyogenic arthritis - pyoderma gangrenosum - acne.

By Bioarray in Spain.

PSTPIP1
Specificity
100 %
Genes
4 %
Periodic Fever NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NLRP12, PSTPIP1, TNFRSF1A, LPIN2, ELANE, NOD2, MEFV, MVK, NLRP3
Specificity
45 %
Genes
14 %
PSTPIP1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PSTPIP1
Specificity
100 %
Genes
4 %
PYOGENIC, ARTHRITIS, PYODERMA GANGRENOSUM AND ACNE.

By Laboratorio de Genetica Clinica SL in Spain.

PSTPIP1
Specificity
100 %
Genes
4 %
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne (PAPA), Sequencing PSTPIP1 Gene.

By Reference Laboratory Genetics in Spain.

PSTPIP1
Specificity
100 %
Genes
4 %
Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

PSTPIP1, TNFRSF1A, NOD2, MEFV, MVK, NLRP3
Specificity
67 %
Genes
14 %
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3
Specificity
43 %
Genes
11 %
PSORS1C1.

By Fulgent Genetics Fulgent Genetics in United States.

PSORS1C1
Specificity
100 %
Genes
4 %
STAT4.

By Fulgent Genetics Fulgent Genetics in United States.

STAT4
Specificity
100 %
Genes
4 %
IL23R.

By Fulgent Genetics Fulgent Genetics in United States.

IL23R
Specificity
100 %
Genes
4 %
ERAP1.

By Fulgent Genetics Fulgent Genetics in United States.

ERAP1
Specificity
100 %
Genes
4 %
Plasminogen Activator Inhibitor Type 1 Genotyping.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

SERPINE1
Specificity
100 %
Genes
4 %
MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SERPINE1, MTHFR, F5, F2
Specificity
25 %
Genes
4 %
Test for Plasminogen Activator Inhibitor I.

By CIBIC S.A. in Argentina.

SERPINE1
Specificity
100 %
Genes
4 %
PAI1 deficiency (frequent mutations on SERPINE1 gene).

By CGC Genetics in Portugal.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen activator inhibitor-1 deficiency (sequence analysis of SERPINE1 gene).

By CGC Genetics in Portugal.

SERPINE1
Specificity
100 %
Genes
4 %
Thrombophilia, PAI-1 deficiency (polimorphisms on SERPINE1 gene).

By CGC Genetics in Portugal.

SERPINE1
Specificity
100 %
Genes
4 %
Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene).

By CGC Genetics in Portugal.

SERPINE1, MTHFR, F5, F2
Specificity
25 %
Genes
4 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, PRKACG, F7, VKORC1, GP1BB, SERPINE1, MASTL, ITGA2B, ITGB3, CD36 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
4 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, F7, VKORC1, SERPINE1, FGG, GGCX, FGB, FGA, F8, F9, VWF, F11, F5, F2
Specificity
5 %
Genes
4 %
Plasminogen activator inhibitor 1.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen activator inhibitor type 1.

By Centogene AG - the Rare Disease Company in Germany.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen activator inhibitor type 1 deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

SERPINE1
Specificity
100 %
Genes
4 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

SERPINC1, F13A1, DSG1, F12, F10, PDGFRB, ETV6, TET2, SERPINE1, ADAMTS13, F8, VWF, F11, ENTPD1, VHL, F5, F2
Specificity
6 %
Genes
4 %
Plasminogen Activator Inhibitor (4G/5G polymorphism, SERPINE1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen activator inhibitor-1 deficiency.

By Praxis fuer Humangenetik Wien in Austria.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen activator inhibitor-1 (PAI1) deficiency: 4G / 5G polymorphism PAI1 gene.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen Activator Inhibitor - 4G/5G.

By Quest Diagnostics Nichols Institute Chantilly in United States.

SERPINE1
Specificity
100 %
Genes
4 %
SERPINE1.

By Fulgent Genetics Fulgent Genetics in United States.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SERPINE1
Specificity
100 %
Genes
4 %
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SERPINE1
Specificity
100 %
Genes
4 %
PAI1 4G.

By IBC Instituto de Bioquimica Clinica SRL IBC Instituto de Bioquimica Clinica SRL in Argentina.

SERPINE1
Specificity
100 %
Genes
4 %
Genetic Study of Hereditary Thrombophilia (11 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

PROCR, SERPINC1, F13A1, F12, PROS1, SERPINE1, GP1BA, MTHFR, F5, F2
Specificity
10 %
Genes
4 %
Thrombophilia Panel.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

SERPINE1, MTHFR, F5, F2
Specificity
25 %
Genes
4 %
Thrombophilia Panel.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

SERPINE1, MTHFR, F5, F2
Specificity
25 %
Genes
4 %
PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1 DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

SERPINE1
Specificity
100 %
Genes
4 %
PAI-1 gene polymorphism.

By Genomic Laboratory Semmelweis University in Hungary.

SERPINE1
Specificity
100 %
Genes
4 %
Ankylosing Spondylitis (HLAB27) Genotyping.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HLA-B
Specificity
100 %
Genes
4 %
Spondyloarthropathy, Susceptibility to.

By Laboratory of Genetics HUSLAB in Finland.

HLA-B
Specificity
100 %
Genes
4 %
HLA B27.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

HLA-B
Specificity
100 %
Genes
4 %
B57 Testing.

By Immuno-Molecular Pathology University of Kentucky in United States.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B 1502 genotype.

By Molecular Diagnosis Centre National University Hospital in Singapore.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B27 typing PCR.

By Molecular Diagnosis Centre National University Hospital in Singapore.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B27.

By Department for blood group serology and transfusion medicine Medical University Graz in Austria.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B*57:01 typing.

By Quest Diagnostics Nichols Institute Chantilly in United States.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B*15:02.

By Genelex in United States.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B*58:01.

By Genelex in United States.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B*57:01.

By Genelex in United States.

HLA-B
Specificity
100 %
Genes
4 %
Mental Health DNA Insight.

By Pathway Genomics in United States.

UGT1A4, CYP1A2, HLA-B, SLC6A4, CYP2D6, CYP2C19
Specificity
17 %
Genes
4 %
Abacavir hypersensitivity.

By Genomic Engenharia Molecular in Brazil.

HLA-B
Specificity
100 %
Genes
4 %
HLA-B27.

By Genomic Engenharia Molecular in Brazil.

HLA-B
Specificity
100 %
Genes
4 %
OneOme RightMed comprehensive test.

By OneOme in United States.

HLA-A, NUDT15, CYP2C18, GRIK4, HTR2A, HTR2C, OPRM1, CYP2B6, CYP3A5, CYP4F2, CYP3A4, IFNL3, CYP1A2, HLA-B, CYP2C9, SLCO1B1, VKORC1, TPMT, DRD2, SLC6A4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
4 %
Carbamazepine response.

By Xcode Life Xcode Life in India.

HLA-A, HLA-B, SCN2A
Specificity
34 %
Genes
4 %
Phenytoin response.

By Xcode Life Xcode Life in India.

HLA-B, SCN2A
Specificity
50 %
Genes
4 %
HLA-B*5701 genotyping.

By Molecular Genetics, Sunnybrook HSC Sunnybrook Health Sciences Centre in Canada.

HLA-B
Specificity
100 %
Genes
4 %
CCR1.

By Fulgent Genetics Fulgent Genetics in United States.

CCR1
Specificity
100 %
Genes
4 %
Blau Syndrome (NOD2/CARD15 Complete Gene).

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

NOD2
Specificity
100 %
Genes
4 %
Crohn's Disease - NOD2/CARD15 Complete Gene Analysis.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

NOD2
Specificity
100 %
Genes
4 %
NOD2 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NOD2
Specificity
100 %
Genes
4 %
NOD2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NOD2
Specificity
100 %
Genes
4 %
NOD2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NOD2
Specificity
100 %
Genes
4 %
NOD2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NOD2
Specificity
100 %
Genes
4 %
NOD2. Sequencing of the exons 5, 8 and 11.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NOD2
Specificity
100 %
Genes
4 %
Sarcoidosis, early-onset (sequence analysis of NOD2 gene).

By CGC Genetics in Portugal.

NOD2
Specificity
100 %
Genes
4 %
Blau syndrome (sequence analysis of NOD2 gene).

By CGC Genetics in Portugal.

NOD2
Specificity
100 %
Genes
4 %
Crohn disease (sequence analysis of NOD2 gene).

By CGC Genetics in Portugal.

NOD2
Specificity
100 %
Genes
4 %
Pediatric Granulomatous Arthritis via the NOD2 Gene.

By PreventionGenetics PreventionGenetics in United States.

NOD2
Specificity
100 %
Genes
4 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
4 %
Crohn Disease.

By Bioscientia GmbH Center for Human Genetics in Germany.

IL6, NOD2
Specificity
50 %
Genes
4 %
Sarcoidosis, early-onset.

By Centogene AG - the Rare Disease Company in Germany.

NOD2
Specificity
100 %
Genes
4 %
Blau syndrome.

By Centogene AG - the Rare Disease Company in Germany.

NOD2
Specificity
100 %
Genes
4 %
Crohn disease.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

NOD2
Specificity
100 %
Genes
4 %
Single gene testing NOD2.

By CeGaT GmbH in Germany.

NOD2
Specificity
100 %
Genes
4 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

SP110, RPSA, FCGR3A, ZBTB24, MCM4, SPINK5, RNF168, DNMT3B, TYK2, SMARCAL1, PDGFRA, NOD2, NHP2, CFH, FGF10, ADAR, DOCK8, TERT, TERC, DKC1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
4 %
Crohn Disease (NOD2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NOD2
Specificity
100 %
Genes
4 %
Blau syndrome: NOD2 (CARD15) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
4 %
Blau syndrome: NOD2 (CARD15) gene sequence analysis (exon 4).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
4 %
Crohn disease: NOD2 (CARD15) gene mutation analysis (p.R702W, p.G908R,1007fs).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
4 %
Crohn disease: NOD2 (CARD15) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOD2
Specificity
100 %
Genes
4 %
NOD2.

By Fulgent Genetics Fulgent Genetics in United States.

NOD2
Specificity
100 %
Genes
4 %
Chronic Granulomatous Disease Panel.

By Blueprint Genetics in Finland.

NCF1, NOD2, NCF4, NCF2, CYBB, G6PD, CYBA
Specificity
15 %
Genes
4 %
Inflammatory bowel disease 1.

By Bioarray in Spain.

NOD2
Specificity
100 %
Genes
4 %
BLAU SYNDROME.

By Bioarray in Spain.

NOD2
Specificity
100 %
Genes
4 %
NOD2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NOD2
Specificity
100 %
Genes
4 %
CROHN´S DISEASE (SUSCEPTIBILITY).

By Laboratorio de Genetica Clinica SL in Spain.

NOD2
Specificity
100 %
Genes
4 %
Crohn Disease, Sequencing NOD2 Gene.

By Reference Laboratory Genetics in Spain.

NOD2
Specificity
100 %
Genes
4 %
Blau Syndrome , Sequencing NOD2 Gene.

By Reference Laboratory Genetics in Spain.

NOD2
Specificity
100 %
Genes
4 %
Crohn Disease, Mutations (p.R702W, p.G908R, 1007fs) NOD2 Gene.

By Reference Laboratory Genetics in Spain.

NOD2
Specificity
100 %
Genes
4 %
Crohn Disease.

By Labor Dr. Wisplinghoff in Germany.

NOD2
Specificity
100 %
Genes
4 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CX3CR1, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, EFEMP1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, TLR4, FBLN5
Specificity
5 %
Genes
4 %
TLR4.

By Fulgent Genetics Fulgent Genetics in United States.

TLR4
Specificity
100 %
Genes
4 %
IL12A.

By Fulgent Genetics Fulgent Genetics in United States.

IL12A
Specificity
100 %
Genes
4 %
KLRC4.

By Fulgent Genetics Fulgent Genetics in United States.

KLRC4
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever.

By Center for Human Genetics, Inc in United States.

MEFV
Specificity
100 %
Genes
4 %
MEFV Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MEFV
Specificity
100 %
Genes
4 %
MEFV Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean fever.

By Molecular Genetics Rabin Medical Center in Israel.

MEFV
Specificity
100 %
Genes
4 %
MEFV.

By Institute for Human Genetics University Clinic Freiburg in Germany.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever (MEFV) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MEFV
Specificity
100 %
Genes
4 %
MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TNFRSF1A, MEFV, MVK, NLRP3
Specificity
50 %
Genes
7 %
MEFV. Sequencing of the exons 2, 3, 5 and 10.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MEFV
Specificity
100 %
Genes
4 %
MEFV. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MEFV
Specificity
100 %
Genes
4 %
Familial mediterranean fever (frequent mutation of MEFV gene).

By CGC Genetics in Portugal.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever (deletion/duplication analysis of MEFV gene).

By CGC Genetics in Portugal.

MEFV
Specificity
100 %
Genes
4 %
Familial mediterranean fever (sequence analysis of MEFV gene).

By CGC Genetics in Portugal.

MEFV
Specificity
100 %
Genes
4 %
Familial mediterranean fever.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MEFV
Specificity
100 %
Genes
4 %
Familial mediterranean fever.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SAA1, TNFRSF1A, MEFV
Specificity
67 %
Genes
7 %
Familial mediterranean fever.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever.

By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics in Cyprus.

MEFV
Specificity
100 %
Genes
4 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CD70, IL2RA, NLRC4, TNFRSF1A, CD27, ITK, STXBP2, XIAP, STX11, UNC13D, RAB27A, SH2D1A, MEFV, LYST, BLOC1S6, MAGT1, MVK, NLRP3, BTK, WAS , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
7 %
Familial Mediterranean Fever (Renal Amyloidosis) via MEFV Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MEFV
Specificity
100 %
Genes
4 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Periodic Fever Syndromes.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

TNFRSF1A, MEFV, MVK
Specificity
67 %
Genes
7 %
Familial Mediterranean Fever.

By Bioscientia GmbH Center for Human Genetics in Germany.

MEFV
Specificity
100 %
Genes
4 %
Familial mediterranean fever.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

MEFV
Specificity
100 %
Genes
4 %
FMF.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MEFV
Specificity
100 %
Genes
4 %
Mediterranean fever familial.

By Centogene AG - the Rare Disease Company in Germany.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MEFV
Specificity
100 %
Genes
4 %
Single gene testing MEFV.

By CeGaT GmbH in Germany.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean fever.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

MEFV
Specificity
100 %
Genes
4 %
FMF - MEFV.

By ProntoLab - MLPA Lab Pronto Diagnostics Ltd. in Israel.

MEFV
Specificity
100 %
Genes
4 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
Mediterranean fever, familial.

By Praxis fuer Humangenetik Wien in Austria.

MEFV
Specificity
100 %
Genes
4 %
MEFV.

By Division Human Genetics Medical University Innsbruck in Austria.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever | Recurrent Polyserositis,Familial Mediterranean Fever Type 1 | Familial Mediterranean Fever Type 2.

By ATG-GenMed ATG-GenMed in Germany.

MEFV
Specificity
100 %
Genes
4 %
Family Prep Screen.

By Counsyl in United States.

BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
4 %
Mediterranean fever, familial.

By MedGene in Slovakia.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean fever.

By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States.

MEFV
Specificity
100 %
Genes
4 %
Invitae Familial Mediterranean Fever Test.

By Invitae in United States.

MEFV
Specificity
100 %
Genes
4 %
Mediterranean fever, Familial: MEFV gene 12 mutations analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MEFV
Specificity
100 %
Genes
4 %
Mediterranean fever, Familial: MEFV gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MEFV
Specificity
100 %
Genes
4 %
Mediterranean fever, Familial: MEFV gene sequence analysis (exons 2, 3, 5, 10).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MEFV
Specificity
100 %
Genes
4 %
Fiebre mediterránea familiar: Deleciones-duplicaciones (MLPA) gen MEFV.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MEFV
Specificity
100 %
Genes
4 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
4 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
MEFV Gene, Full Gene Analysis.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever (MEFV).

By Integrated Genetics Westborough Integrated Genetics in United States.

MEFV
Specificity
100 %
Genes
4 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
4 %
MEFV.

By Fulgent Genetics Fulgent Genetics in United States.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

MEFV
Specificity
100 %
Genes
4 %
Familial mediterranean fever.

By Bioarray in Spain.

MEFV
Specificity
100 %
Genes
4 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
4 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
4 %
MEFV Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MEFV
Specificity
100 %
Genes
4 %
FAMILIAL MEDITERRANEAN FEVER.

By Laboratorio de Genetica Clinica SL in Spain.

MEFV
Specificity
100 %
Genes
4 %
PERIODIC FEVER-APHTOUS STOMATITIS-PHARYNGITIS-ADENOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

SPAG7, MEFV, MVK, NLRP3
Specificity
25 %
Genes
4 %
Familial Mediterranean Fever , Sequencing MEFV Gene.

By Reference Laboratory Genetics in Spain.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean Fever , Sequencing Exons (2,3,5,10) MEFV Gene.

By Reference Laboratory Genetics in Spain.

MEFV
Specificity
100 %
Genes
4 %
Autosomal Recessive Familial Mediterranean Fever , Deletions-Duplications (MLPA) MEFV Gene.

By Reference Laboratory Genetics in Spain.

MEFV
Specificity
100 %
Genes
4 %
Autosomal Dominant Familial Mediterranean Fever , Deletions-Duplications (MLPA) MEFV Gene.

By Reference Laboratory Genetics in Spain.

MEFV
Specificity
100 %
Genes
4 %
Familial Mediterranean fever.

By Labor Dr. Wisplinghoff in Germany.

MEFV
Specificity
100 %
Genes
4 %
planTrue Extended.

By True Health Diagnostics in United States.

HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
4 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
4 %
CECR1 sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ADA2
Specificity
100 %
Genes
4 %
CECR1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ADA2
Specificity
100 %
Genes
4 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
Polyarteritis nodosa (sequence analysis of CECR1 gene).

By CGC Genetics in Portugal.

ADA2
Specificity
100 %
Genes
4 %
CECR1.

By MGZ Medical Genetics Center in Germany.

ADA2
Specificity
100 %
Genes
4 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
4 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
4 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
4 %
Polyarteritis nodosa, childhood-onset.

By Centogene AG - the Rare Disease Company in Germany.

ADA2
Specificity
100 %
Genes
4 %
Deficiency of ADA2.

By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States.

ADA2
Specificity
100 %
Genes
4 %
CECR1.

By Fulgent Genetics Fulgent Genetics in United States.

ADA2
Specificity
100 %
Genes
4 %
UBAC2.

By Fulgent Genetics Fulgent Genetics in United States.

UBAC2
Specificity
100 %
Genes
4 %
TNFRSF1A Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TNFRSF1A
Specificity
100 %
Genes
4 %
Familial periodic fever (sequence analysis of TNFRSF1A gene).

By CGC Genetics in Portugal.

TNFRSF1A
Specificity
100 %
Genes
4 %
Familial periodic fever/TRAPS syndrome (deletion/duplication analysis on TNFRSF1A gene).

By CGC Genetics in Portugal.

TNFRSF1A
Specificity
100 %
Genes
4 %
Familial periodic fever/TRAPS syndrome (deletion/duplication analysis on TNFRSF1A gene).

By CGC Genetics in Portugal.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNF-Receptor Associated Periodic Syndrome (TRAPS) via TNFRSF1A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNFRSF1A
Specificity
100 %
Genes
4 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP6V1E1, AEBP1, ATP6V1A, LZTS1, ATP6AP1, FLNB, DSE, CHST3, RIN2, TNFRSF1A, GGCX, B3GALT6, C1R, C1S, GORAB, B3GAT3, SPARC, COL12A1, EFEMP2, ZNF469 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
4 %
Autosomal Dominant Familial Periodic Fever.

By Bioscientia GmbH Center for Human Genetics in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
TRAPS (TNF receptor-associated periodic syndrome).

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
TRAPS.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic fever, familial autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
Autosomal Dominant Familial Periodic Fever.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic fever, familial, autosomal dominant.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
Tumor necrosis factor receptor-associated periodic syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
Single gene testing TNFRSF1A.

By CeGaT GmbH in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
Autosomal Dominant Familial Periodic Fever, TNFRSF1A.

By GGA - Galil Genetic Analysis in Israel.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A.

By ProntoLab - MLPA Lab Pronto Diagnostics Ltd. in Israel.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic Fever, familial, autosomal-dominant.

By Praxis fuer Humangenetik Wien in Austria.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A.

By Division Human Genetics Medical University Innsbruck in Austria.

TNFRSF1A
Specificity
100 %
Genes
4 %
TRAPS.

By Department of Clinical Immunology Odense University Hospital in Denmark.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic Fever, familial, autosomal-dominant.

By MedGene in Slovakia.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNF-Receptor-Associated Periodic Syndrome.

By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic fever: TNFRSF1A gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic fever: TNFRSF1A gene screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A Gene, Full Gene Analysis.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF1A
Specificity
100 %
Genes
4 %
Familial hibernian fever.

By Bioarray in Spain.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNFRSF1A Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNF RECEPTOR ASSOCIATED PERIODIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic Fever (TRAPS Syndrome), Sequencing TNFRSF1A Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF1A
Specificity
100 %
Genes
4 %
Periodic Fever (TRAPS Syndrome), Frequent Mutations TNFRSF1A Gene.

By Reference Laboratory Genetics in Spain.

TNFRSF1A
Specificity
100 %
Genes
4 %
TNF receptor-associated periodic fever syndrome (TRAPS).

By Labor Dr. Wisplinghoff in Germany.

TNFRSF1A
Specificity
100 %
Genes
4 %
ICAM1.

By Fulgent Genetics Fulgent Genetics in United States.

ICAM1
Specificity
100 %
Genes
4 %

Alternate names

Behcet Syndrome Is also known as behcet disease;bd;.



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