Immunodeficiency 14; Imd14

Description

Immunodeficiency-14 is an autosomal dominant primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by Lucas et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 14; Imd14

  • Splenomegaly
  • Pneumonia
  • Recurrent respiratory infections
  • Immunodeficiency
  • Recurrent infections
  • Respiratory tract infection
  • Lymphadenopathy
  • Decreased antibody level in blood
  • Lymphoma
  • Recurrent pneumonia
And another 4 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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Immunodeficiency 14; Imd14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PIK3CD Sequencing.

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

PIK3CD
Specificity
100 %
Genes
34 %
PIK3CD Deletion/duplication analysis.

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

PIK3CD
Specificity
100 %
Genes
34 %
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
34 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

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

IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, VAV1, PLCG2, PRKCD, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19, PIK3R1, NFKB2, NFKBIA, LRBA, PIK3CD , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
67 %
Immunodeficiency 14 (sequence analysis of PIK3CD gene).

By CGC Genetics in Portugal.

PIK3CD
Specificity
100 %
Genes
34 %
Primary Immunodeficiency via the PIK3CD Gene.

By PreventionGenetics PreventionGenetics in United States.

PIK3CD
Specificity
100 %
Genes
34 %
Hyper IgM Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NFKBIA, PIK3CD, CD40LG, CD40, AICDA, SH2D1A, BTK, NBN, MRE11, ATM, UNG
Specificity
10 %
Genes
34 %
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
34 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
Immunodeficiency type 14.

By Centogene AG - the Rare Disease Company in Germany.

PIK3CD
Specificity
100 %
Genes
34 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAPBP, TAP2, TRAC, TNFRSF4, RHOH, IKBKB, LCK, CD247, CD8A, CORO1A, CD3G, MBL2, MALT1, IL21R, ACP5, CARD11, PRKDC, CR2, TTC7A, STK4 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
34 %
Invitae Common Variable Immunodeficiency Panel.

By Invitae in United States.

TNFSF12, IL21R, IL21, PLCG2, PRKCD, TNFRSF13C, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, PIK3CD, RAC2, TNFRSF13B, STAT3
Specificity
12 %
Genes
67 %
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
3 %
Genes
67 %
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
5 %
Genes
67 %
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
1 %
Genes
67 %
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel.

By Invitae in United States.

PRKCD, CTLA4, PIK3CD, ITK, FASLG, FAS, MAGT1, CASP8
Specificity
13 %
Genes
34 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

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

PRKCB, PIK3CG, LRP1, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, IL2, PRKCH, RAC1, ERBB2, SRC, IL2RA, SRCAP, PIK3R1, PIK3CD, AKT1, PIK3R2 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
PIK3CD.

By Fulgent Genetics Fulgent Genetics in United States.

PIK3CD
Specificity
100 %
Genes
34 %
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
1 %
Genes
67 %
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
34 %
Focus::MCL™ NGS Panel.

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

SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
67 %
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
5 %
Genes
67 %
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
5 %
Genes
67 %
Activated PI3K-delta Immunodeficiency Syndrome , Sequencing PIK3CD gene.

By Reference Laboratory Genetics in Spain.

PIK3CD
Specificity
100 %
Genes
34 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

PDCD1, IRF4, CXCL12, TNFRSF4, IKBKB, IL21R, IL21, NFKB1, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
67 %
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
100 %
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
100 %
PTEN Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PTEN
Specificity
100 %
Genes
34 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

GPC3, MET, FLCN, SDHD, CDKN1C, SDHA, SDHB, FH, SDHC, SDHAF2, WT1, PTEN, VHL
Specificity
8 %
Genes
34 %
High Risk Hereditary Colorectal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
9 %
Genes
34 %
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

CDC73, PRKAR1A, MAX, SDHD, TSHR, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
34 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
34 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

PMS1, ENG, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
PTEN Sequencing Test.

By Athena Diagnostics Inc in United States.

PTEN
Specificity
100 %
Genes
34 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
34 %
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GLI3, RNF135, EZH2, NFIX, DNMT3A, UPF3B, MED12, CUL4B, PHF6, GPC3, CDKN1C, PTCH1, NSD1, PTEN
Specificity
8 %
Genes
34 %
PTEN related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PTEN
Specificity
100 %
Genes
34 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FLT4, TEK, PTPN14, KIF11, STAMBP, VEGFC, GLMN, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FOXC2, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, GJC2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
PTEN Hamartoma Tumor Syndrome.

By Center for Human Genetics, Inc in United States.

PTEN
Specificity
100 %
Genes
34 %
Macrocephaly/autism syndrome.

By Center for Human Genetics, Inc in United States.

PTEN
Specificity
100 %
Genes
34 %
Autism Spectrum Disorders 53-Gene Panel.

By Center for Human Genetics, Inc in United States.

CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
Cowden Disease and PTEN Hamartoma Tumor Syndrome.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Gene Characterization.

By Molecular Pathology Laboratory Ohio State University in United States.

PTEN
Specificity
100 %
Genes
34 %
Comprehensive breast and ovarian cancer panel testing (18 genes).

By Molecular Genetics Laboratory North York General Hospital in Canada.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Comprehensive breast cancer panel testing (10 genes).

By Molecular Genetics Laboratory North York General Hospital in Canada.

BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
PTEN Related Disorders - Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Related Disorders - Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

PTEN
Specificity
100 %
Genes
34 %
Breast Cancer Predisposition, (BRCA1, BRCA2, TP53, CHEK2, PALB2, CDH1, PTEN, STK11, ATM), Mutation, Deletion/Duplication Analysis.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
PTEN sequence analysis.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center in United States.

PTEN
Specificity
100 %
Genes
34 %
Inherited Cancer Panel.

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

CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
Autsim Panel.

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

NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
34 %
Comprehensive Brain Malformation Panel.

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

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
34 %
Dystonia.

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

SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, ADAR, C19orf12, ERCC6, TAF1, AP1S2, VPS13A , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
34 %
Inherited Breast Cancer.

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

CHEK2, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Macrocephaly.

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

PIK3CA, GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, PTCH1, NSD1, PTEN
Specificity
10 %
Genes
34 %
Movement Disorders Panel.

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

VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
34 %
MyeloidDx by NGS.

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

BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
MyeloidDx by NGS.

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

TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
VistaSeq Hereditary Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Vistaseq Hereditary Cancer Panel Without BRCA.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
VistaSeq Breast Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

MITF, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
6 %
Genes
34 %
VistaSeq High/Moderate Risk Breast Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
34 %
VistaSeq Colorectal Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
VistaSeq Endrocrine Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

NF1, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, TP53, PTEN, VHL
Specificity
8 %
Genes
34 %
VistaSeq GYN Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
myRisk Hereditary Cancer.

By Myriad Genetic Laboratories, Inc. Myriad Genetic Laboratories, Inc. in United States.

POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
PTEN Hamartoma Tumor Syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

PTEN
Specificity
100 %
Genes
34 %
PTEN Sequencing.

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

PTEN
Specificity
100 %
Genes
34 %
PTEN Deletion/duplication analysis.

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

PTEN
Specificity
100 %
Genes
34 %
Hereditary Gastric Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

PDGFRA, KIT, CTNNA1, SMAD4, BMPR1A, STK11, CDH1, SDHB, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Hereditary Thyroid Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DICER1, SRGAP1, WRN, AKT1, PIK3CA, PRKAR1A, CHEK2, SDHD, SDHB, RET, TP53, PTEN, APC
Specificity
8 %
Genes
34 %
Colorectal Polyposis Panel.

By Genetic Services Laboratory University of Chicago in United States.

BUB1B, AXIN2, POLE, GREM1, POLD1, ENG, SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC
Specificity
9 %
Genes
34 %
Comprehensive Hereditary Colorectal Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

GALNT12, BUB1B, AXIN2, POLE, GREM1, POLD1, ENG, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Hereditary Breast and Ovarian Cancer High Risk Panel.

By Genetic Services Laboratory University of Chicago in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Comprehensive Hereditary Breast/Ovarian Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
PTEN Hamartoma Tumor Syndrome.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

PTEN
Specificity
100 %
Genes
34 %
PTEN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PTEN
Specificity
100 %
Genes
34 %
Hereditary Cancer Panel Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

POLE, GREM1, POLD1, CTNNA1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, SDHB, TP53 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
Hereditary Cancer Panel - High Penetrance 16.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
7 %
Genes
34 %
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes.

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

RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, BRCA2, BRCA1
Specificity
5 %
Genes
34 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

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

CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
34 %
Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes.

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

BAP1, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, MSH2, VHL
Specificity
7 %
Genes
34 %
PTEN-Related Disorders, Del/Dup.

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

PTEN
Specificity
100 %
Genes
34 %
PTEN-Related Disorders, Sequencing.

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

PTEN
Specificity
100 %
Genes
34 %
PTEN-Related Disorders, Seq and Del/Dup.

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

PTEN
Specificity
100 %
Genes
34 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes.

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

TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN
Specificity
8 %
Genes
34 %
Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 16 Genes.

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

SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
7 %
Genes
34 %
Comprehensive Cancer Panel.

By GeneDx in United States.

AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Breast Cancer High Risk Panel and PALB2.

By GeneDx in United States.

CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
17 %
Genes
34 %
Breast Cancer High/Moderate Risk Panel.

By GeneDx in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
34 %
Oncology High/Moderate Risk Panel.

By GeneDx in United States.

RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Breast Cancer High Risk Panel.

By GeneDx in United States.

CDH1, TP53, PTEN, BRCA2, BRCA1
Specificity
20 %
Genes
34 %
Breast/Ovarian Cancer Panel.

By GeneDx in United States.

XRCC2, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
5 %
Genes
34 %
Colorectal Cancer Panel.

By GeneDx in United States.

AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Endometrial Cancer Panel.

By GeneDx in United States.

POLD1, CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
9 %
Genes
34 %
OncoGeneDx Custom Panel.

By GeneDx in United States.

AXIN2, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, FANCC, TP53, PTEN, MUTYH , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Renal Cancer Panel.

By GeneDx in United States.

BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
6 %
Genes
34 %
Hereditary Cancer Panel - Breast9.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
34 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ABRAXAS1, XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
34 %
Hereditary Cancer Panel - Renal19.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
6 %
Genes
34 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

NF1, CDC73, PRKAR1A, MAX, SDHD, TSC1, TSC2, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
6 %
Genes
34 %
Hereditary Cancer Panel - Colorectal20.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

GALNT12, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
5 %
Genes
34 %
Hereditary Cancer Panel - Breast/Ovarian17.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
PTEN Hamartoma Tumur Syndrome (PHTS).

By Genetic Pathology SA Pathology in Australia.

PTEN
Specificity
100 %
Genes
34 %
AutismNext.

By Ambry Genetics in United States.

POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
BrainTumorNext.

By Ambry Genetics in United States.

DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
BRCAplus.

By Ambry Genetics in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
34 %
BreastNext.

By Ambry Genetics in United States.

NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
CancerNext-Expanded.

By Ambry Genetics in United States.

HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
34 %
CancerNext.

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
ColoNext.

By Ambry Genetics in United States.

POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
CustomNext: Cancer.

By Ambry Genetics in United States.

NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
34 %
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
34 %
MelanomaNext.

By Ambry Genetics in United States.

BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
13 %
Genes
34 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
34 %
OvaNext.

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
PTEN gene sequence and deletion/duplication.

By Ambry Genetics in United States.

PTEN
Specificity
100 %
Genes
34 %
RenalNext.

By Ambry Genetics in United States.

BAP1, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
6 %
Genes
34 %
TumorNext-Lynch+ColoNext.

By Ambry Genetics in United States.

POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, NRAS, KRAS, BRAF, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
5 %
Genes
34 %
TumorNext-HRD+CancerNext.

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
TumorNext-Lynch+CancerNext.

By Ambry Genetics in United States.

HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
TumorNext-HRD+OvaNext.

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
TumorNext-Lynch+OvaNext.

By Ambry Genetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
GYNplus.

By Ambry Genetics in United States.

RAD51D, RAD51C, BRIP1, PALB2, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
8 %
Genes
34 %
IDNext.

By Ambry Genetics in United States.

KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
34 %
PTEN mutation analysis.

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

PTEN
Specificity
100 %
Genes
34 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

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

ANTXR1, DOCK6, MAP3K3, KDR, GNAQ, PIK3CA, TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, SOX18, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Segmental Overgrowth Disorders - NGS panel (8 genes).

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

AKT1, AKT3, PIK3R2, PIK3CA, MTOR, TSC1, TSC2, PTEN
Specificity
13 %
Genes
34 %
PTEN. Complete sequencing.

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

PTEN
Specificity
100 %
Genes
34 %
PTEN. MLPA testing.

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

PTEN
Specificity
100 %
Genes
34 %
PTEN. Complete sequencing.

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

PTEN
Specificity
100 %
Genes
34 %
PTEN. MLPA testing.

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

PTEN
Specificity
100 %
Genes
34 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Deletion/Duplication Analaysis.

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

PTEN
Specificity
100 %
Genes
34 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence Analaysis.

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

PTEN
Specificity
100 %
Genes
34 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Known Point Mutation Analaysis.

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

PTEN
Specificity
100 %
Genes
34 %
Autism/PTEN Hamartoma Tumor Syndrome - PTEN Sequence and Del/Dup Analaysis.

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

PTEN
Specificity
100 %
Genes
34 %
Hereditary Breast, Ovarian, and Endometrial Cancer Panel.

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

WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Hereditary High-Risk Breast Cancer Panel.

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

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Hereditary Endocrine Cancer Panel.

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

CDKN1B, CDC73, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
34 %
Hereditary Colorectal and Gastrointestinal Cancer Panel.

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

POLE, POLD1, KIT, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Hereditary High-Risk Colorectal Cancer Panel.

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

SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
9 %
Genes
34 %
Hereditary Melanoma Panel.

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

WRN, BAP1, TERT, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
CHOP Comprehensive Hereditary Cancer Panel.

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

DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
34 %
Hereditary Kidney Cancer Panel.

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

BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, PTEN, MLH1, MSH6, MSH2, VHL
Specificity
5 %
Genes
34 %
Cowden Syndrome (deletion/duplication analysis of PTEN gene).

By CGC Genetics in Portugal.

PTEN
Specificity
100 %
Genes
34 %
Breast cancer (NGS panel for 18 genes).

By CGC Genetics in Portugal.

ERCC4, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Macrocephaly (NGS panel for 16 genes).

By CGC Genetics in Portugal.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN
Specificity
7 %
Genes
34 %
Cowden syndrome (sequence analysis of PTEN gene).

By CGC Genetics in Portugal.

PTEN
Specificity
100 %
Genes
34 %
Proteus syndrome (sequence analysis of PTEN gene).

By CGC Genetics in Portugal.

PTEN
Specificity
100 %
Genes
34 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
34 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

MSH3, MLH3, GALNT12, AXIN2, POLE, POLD1, TGFBR2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
PTEN Sequencing and Deletion/Duplication on Blood.

By Medical Genomics Laboratory Department of Genetics UAB in United States.

PTEN
Specificity
100 %
Genes
34 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Colorectal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
PTEN Hamartoma Tumor Syndrome via PTEN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PTEN
Specificity
100 %
Genes
34 %
Renal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DIS3L2, DICER1, BAP1, SMARCB1, MITF, CDC73, CHEK2, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL, NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Breast Cancer - High Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
17 %
Genes
34 %
Hereditary Endometrial Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLD1, CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
9 %
Genes
34 %
Breast Cancer - High / Moderate Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
34 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
34 %
Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DICER1, XRCC2, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Melanoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POT1, BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
34 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HDAC6, EML1, WDR81, MPDZ, CCDC88C, CRB2, CCND2, AKT3, PIK3R2, ZIC3, P4HB, DNAI1, FLVCR2, AP1S2, POMT1, L1CAM, PTEN
Specificity
6 %
Genes
34 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
34 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
34 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
34 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
34 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
67 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
34 %
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
34 %
PTEN gene sequencing and deletion/duplicaiton analysis.

By Molecular Diagnostics Laboratory University Health Network in Canada.

PTEN
Specificity
100 %
Genes
34 %
Breast Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
Macrocephaly.

By MGZ Medical Genetics Center in Germany.

DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
PTEN Hamartoma Tumor Syndrome (PHTS).

By MGZ Medical Genetics Center in Germany.

PTEN
Specificity
100 %
Genes
34 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
34 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
34 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
34 %
Renal Cancer.

By MGZ Medical Genetics Center in Germany.

BAP1, SMARCB1, CHEK2, GPC3, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, VHL
Specificity
7 %
Genes
34 %
Colorectal Cancer.

By MGZ Medical Genetics Center in Germany.

BUB1B, PMS1, SMAD4, BMPR1A, CHEK2, MET, STK11, NBN, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
34 %
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
34 %
Thyroid Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

SDHD, SDHB, SDHC, RET, PTEN
Specificity
20 %
Genes
34 %
Megalencephaly.

By MGZ Medical Genetics Center in Germany.

CCND2, AKT1, AKT3, PIK3R2, PIK3CA, TSC1, TSC2, PTEN
Specificity
13 %
Genes
34 %
Polyposis Coli.

By MGZ Medical Genetics Center in Germany.

SMAD4, BMPR1A, CHEK2, STK11, PTEN, MUTYH, APC
Specificity
15 %
Genes
34 %
Breast Cancer.

By MGZ Medical Genetics Center in Germany.

CEP57, BUB1B, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, NF1, RAD51D, RAD51C, BRIP1, CHEK2, SDHD, STK11, CDH1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Thyroid Cancer.

By MGZ Medical Genetics Center in Germany.

DICER1, CHEK2, FLCN, SDHD, STK11, ATM, MEN1, SDHB, SDHC, RET, PTEN, MUTYH, APC
Specificity
8 %
Genes
34 %
Pancreatic Cancer.

By MGZ Medical Genetics Center in Germany.

PMS1, CHEK2, CDKN2A, STK11, PALB2, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2
Specificity
10 %
Genes
34 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
CentoBreast (hereditary breast cancer) panel.

By Centogene AG - the Rare Disease Company in Germany.

BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
34 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
34 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
67 %
Breast ovarian cancer panel.

By Centogene AG - the Rare Disease Company in Germany.

RAD51, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MSH6
Specificity
8 %
Genes
34 %
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
34 %
Prostate cancer panel.

By Centogene AG - the Rare Disease Company in Germany.

HOXB13, CHEK2, NBN, TP53, PTEN, MLH1, MSH6, MSH2, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
CentoCancer panel.

By Centogene AG - the Rare Disease Company in Germany.

NTHL1, POLE, POLD1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, BLM, FH , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
CentoColon extended panel.

By Centogene AG - the Rare Disease Company in Germany.

NTHL1, POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Cowden disease.

By Centogene AG - the Rare Disease Company in Germany.

PTEN
Specificity
100 %
Genes
34 %
Autism Spectrum Disorders / Intellectual Disability.

By Michigan Medical Genetics Laboratories University of Michigan in United States.

MECP2, PTEN
Specificity
50 %
Genes
34 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
34 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

RASAL1, CYLD, DICER1, WRN, AKT1, PIK3CA, BAP1, SMARCB1, SMARCA4, SMARCE1, ATR, SPRED1, LZTR1, NF1, CDC73, MET, SDHD, CDKN2A, NF2, NBN , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Familial melanoma Panel.

By CeGaT GmbH in Germany.

POT1, BAP1, MITF, CDKN2A, CDK4, MC1R, RB1, PTEN
Specificity
13 %
Genes
34 %
Colon Cancer Panel.

By CeGaT GmbH in Germany.

AXIN1, RINT1, POLE, POLD1, SMAD4, BMPR1A, CHEK2, FLCN, STK11, NBN, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Renal cell carcinoma Panel.

By CeGaT GmbH in Germany.

BAP1, MITF, MET, FLCN, SDHD, PALB2, TSC1, TSC2, SDHA, SDHB, FH, SDHC, HNF1B, SDHAF2, WT1, HNF1A, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN
Specificity
6 %
Genes
34 %
Breast and Ovarian Cancer - extended Diagnostic Panel.

By CeGaT GmbH in Germany.

UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN
Specificity
6 %
Genes
34 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
Breast and Ovarian Cancer Panel.

By CeGaT GmbH in Germany.

RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
Single gene testing PTEN.

By CeGaT GmbH in Germany.

PTEN
Specificity
100 %
Genes
34 %
PTEN.

By Innovagenomics Innovagenomics S.L in Spain.

PTEN
Specificity
100 %
Genes
34 %
PTEN hamartoma syndrome.

By GGA - Galil Genetic Analysis in Israel.

PTEN
Specificity
100 %
Genes
34 %
Macrocephaly/Autism Syndrome.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
PHOSPHATASE AND TENSIN HOMOLOG (PTEN-MLPA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTEN
Specificity
100 %
Genes
34 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
34 %
Polyposis Syndromes.

By Asper Biogene Asper Biogene LLC in Estonia.

SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC
Specificity
17 %
Genes
34 %
Thyroid Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

DICER1, CDC73, PRKAR1A, SDHD, MEN1, SDHB, RET, TP53, PTEN, APC
Specificity
10 %
Genes
34 %
PTEN Hamartoma Tumor Syndrome (PHTS).

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

PTEN
Specificity
100 %
Genes
34 %
Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN).

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

EPHB4, STAMBP, RASA1, PTEN
Specificity
25 %
Genes
34 %
Hamartoma Tumor/Cowden/Macrocephaly-autism syndromes (PTEN).

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

PTEN
Specificity
100 %
Genes
34 %
Cowden Disease.

By Praxis fuer Humangenetik Wien in Austria.

PTEN
Specificity
100 %
Genes
34 %
Bannayan-Riley-Ruvalcaba syndrome.

By Praxis fuer Humangenetik Wien in Austria.

PTEN
Specificity
100 %
Genes
34 %
VATER association with macrocephaly and ventriculomegaly.

By Praxis fuer Humangenetik Wien in Austria.

PTEN
Specificity
100 %
Genes
34 %
PTEN Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

PTEN
Specificity
100 %
Genes
34 %
Inherited Cancer Screen.

By Counsyl in United States.

POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
34 %
FAMILIAL MULTIPLE MENINGIOMA.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain.

MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN
Specificity
17 %
Genes
34 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
34 %
qCancer Risk.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
34 %
qCancer Mama.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
34 %
qCancer Gine.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
qCancer Colorrectal.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Bannayan-Riley-Ruvalcaba syndrome.

By MedGene in Slovakia.

PTEN
Specificity
100 %
Genes
34 %
Cowden Disease.

By MedGene in Slovakia.

PTEN
Specificity
100 %
Genes
34 %
VATER association with macrocephaly and ventriculomegaly.

By MedGene in Slovakia.

PTEN
Specificity
100 %
Genes
34 %
Invitae Breast Cancer Panel.

By Invitae in United States.

NF1, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
34 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI).

By Invitae in United States.

DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
34 %
Invitae Breast Cancer Guidelines-Based Panel.

By Invitae in United States.

NF1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
Invitae Thyroid Cancer Panel.

By Invitae in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
34 %
Invitae Renal/Urinary Tract Cancers Panel.

By Invitae in United States.

DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Invitae Melanoma Panel.

By Invitae in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
34 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Invitae Breast and Gyn Cancers Guidelines-Based Panel.

By Invitae in United States.

NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Invitae Breast Cancer STAT Panel.

By Invitae in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
Invitae Breast and Gyn Cancers Panel.

By Invitae in United States.

DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Invitae PTEN-Related Disorders Test.

By Invitae in United States.

PTEN
Specificity
100 %
Genes
34 %
Invitae Colorectal Cancer Guidelines-Based Panel.

By Invitae in United States.

SMAD4, BMPR1A, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
9 %
Genes
34 %
Invitae Colorectal Cancer Panel.

By Invitae in United States.

AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Invitae Overgrowth and Macrocephaly Syndromes Panel.

By Invitae in United States.

NPR2, DIS3L2, KPTN, AKT3, PIK3R2, AKT2, GLI3, EZH2, NFIX, DNMT3A, SPRED1, MED12, CUL4B, PHF6, SETD2, NF1, GPC3, CDKN1C, NSD1, PTEN
Specificity
5 %
Genes
34 %
PTEN: PTEN gene sequence analysis.

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

PTEN
Specificity
100 %
Genes
34 %
COLON CANCER.

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

MSH3, PMS1, ENG, SMAD4, BMPR1A, FLCN, STK11, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
7 %
Genes
34 %
ONCOLOGY, PANEL.

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

POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
34 %
COLON, BREAST AND OVARIAN CANCER.

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

MLH3, AXIN2, XRCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, KRAS , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Cowden Syndrome: PTEN Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN
Specificity
100 %
Genes
34 %
Cowden Syndrome: PTEN Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN
Specificity
100 %
Genes
34 %
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
34 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
34 %
Macrocephaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, GPC3, PTCH1, NSD1, PTEN
Specificity
10 %
Genes
34 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
34 %
Endocrine Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MXD1, AIP, CDKN1B, CDC73, PRKAR1A, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
34 %
High Risk Breast Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
High Risk Colorectal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
34 %
Renal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, SDHB, FH, WT1, PTEN, VHL
Specificity
10 %
Genes
34 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Melanoma: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

WRN, GNAQ, PIK3CA, BAP1, KIT, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, BRAF, RB1, PTEN
Specificity
8 %
Genes
34 %
Gastrointestinal and Colorectal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SERAC1, PDGFRB, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, VPS37A, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
34 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
34 %
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
34 %
Endocrine Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
8 %
Genes
34 %
Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
34 %
High Risk Colorectal Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC
Specificity
7 %
Genes
34 %
Colon Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EXO1, GALNT12, BUB1B, AXIN2, PMS1, SMAD4, BMPR1A, CHEK2, FLCN, CDKN2A, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

WRN, TERT, MITF, ERCC3, CDKN2A, CDK4, TYR, MC1R, RB1, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
34 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
34 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
34 %
Leukoencephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FAM126A, LMNB1, HEPACAM, CSF1R, HTRA1, GFAP, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, MLC1, PLP1, GJC2, EIF2B1, ASPA, ARSA, ACOX1, ALDH3A2, DARS2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
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
34 %
Thyroid Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SDHD, NRAS, KRAS, HRAS, BRAF, SDHB, RET, TP53, PTEN, MUTYH
Specificity
10 %
Genes
34 %
Kidney Renal Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL
Specificity
6 %
Genes
34 %
Renal/Kidney NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, SMARCB1, MITF, CDC73, MET, FLCN, SDHD, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
PTEN.

By Fulgent Genetics Fulgent Genetics in United States.

PTEN
Specificity
100 %
Genes
34 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
34 %
Breast Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
8 %
Genes
34 %
Colorectal Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AXIN2, POLE, POLD1, SMAD4, BMPR1A, CHEK2, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
7 %
Genes
34 %
Endometrial Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLD1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
Melanoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
34 %
Thyroid Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
34 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
34 %
Breast Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Endometrial Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLD1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
Colorectal Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MLH3, GALNT12, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Renal / Urinary Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
PTEN Sequencing and Deletion/Duplication.

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

PTEN
Specificity
100 %
Genes
34 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel.

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

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
GIvantage Hereditary Colon Cancer Panel.

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

SMAD4, BMPR1A, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
8 %
Genes
34 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
34 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
34 %
Hereditary Colorectal Cancer Panel.

By Blueprint Genetics in Finland.

NTHL1, AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, STK11, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics in Finland.

CNOT3, EN2, COL4A3BP, TCF20, KMT5B, CNTN6, CTNND2, TRIP12, BCL11A, POGZ, CC2D1A, RPL10, NLGN3, NLGN4X, CACNA1C, FOXP1, ADNP, PTCHD1, SHANK3, NSD1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Macrocephaly / Overgrowth Syndrome Panel.

By Blueprint Genetics in Finland.

EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Hereditary Gastrointestinal Cancer Panel.

By Blueprint Genetics in Finland.

NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
Hereditary Endocrine Cancer Panel.

By Blueprint Genetics in Finland.

DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Hereditary Breast and Gynecological Cancer Panel.

By Blueprint Genetics in Finland.

DICER1, XRCC2, FANCM, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, BLM, TP53, PTEN , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Hereditary Melanoma and Skin Cancer Panel.

By Blueprint Genetics in Finland.

DDB2, XPC, XPA, ERCC5, WRN, POT1, ERCC4, BAP1, MITF, ERCC3, ERCC2, CDKN2A, CDK4, SUFU, PTCH1, TP53, PTEN, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Hereditary Renal Cancer Panel.

By Blueprint Genetics in Finland.

REST, DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Hereditary Breast Cancer High Risk Panel.

By Blueprint Genetics in Finland.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Hereditary Cancer High Risk Panel.

By Blueprint Genetics in Finland.

POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Vascular Malformations Panel.

By Blueprint Genetics in Finland.

ELMO2, PIK3CA, TEK, STAMBP, GLMN, ACVRL1, SOX18, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN
Specificity
8 %
Genes
34 %
COLOTRUE™.

By Pathway Genomics in United States.

MDM2, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
7 %
Genes
34 %
BreastTrue.

By Pathway Genomics in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

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

CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

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

CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Focus::HERSite® NGS Panel.

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

RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
7 %
Genes
34 %
Focus::CLL™ NGS Panel.

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

XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Focus::Renal® NGS Panel.

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

RHEB, HIF1A, PBRM1, EPHB4, ROS1, AXL, SMO, ERBB2, PDGFRB, AKT1, ABL1, EGFR, FLT3, AKT2, PIK3CA, BAP1, KIT, ARID1A, MTOR, KDM5C , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Cowden syndrome.

By Bioarray in Spain.

PTEN
Specificity
100 %
Genes
34 %
Cowden syndrome.

By Bioarray in Spain.

PTEN
Specificity
100 %
Genes
34 %
Somatic Overgrowth Gene Set.

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

SMO, AKT1, AKT3, PIK3R2, GNA11, IDH1, GNAQ, AKT2, PIK3CA, MTOR, RASA1, TSC1, TSC2, IDH2, PTEN
Specificity
7 %
Genes
34 %
Solid Tumor Gene Set.

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

BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
67 %
CNS Tumor Gene Set.

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

H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
67 %
Melanoma Gene Set.

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

KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
Breast Tumors Gene Set.

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

RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
67 %
Genitourinary Tumors Gene Set.

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

PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
Gynecologic Tumors Gene Set.

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

ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
67 %
Head & Neck Tumors Gene Set.

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

RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
67 %
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel.

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

TMCO1, DIS3L2, RNF135, EZH2, NFIX, DNMT3A, SETD2, GPC3, CDKN1C, PTCH1, NSD1, PLOD1, PTEN
Specificity
8 %
Genes
34 %
Cowden Syndrome NGS and Deletion/Duplication Panel.

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

AKT1, PIK3CA, SDHD, SDHB, PTEN
Specificity
20 %
Genes
34 %
PTEN Gene Sequencing and Deletion/Duplication Analysis.

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

PTEN
Specificity
100 %
Genes
34 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
34 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
34 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
34 %
Breast Cancer Panel.

By ApolloGen, Inc. in United States.

RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, MSH2, BRCA2, BRCA1
Specificity
7 %
Genes
34 %
iGene Cancer Panel.

By ApolloGen, Inc. in United States.

NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
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
67 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
34 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
34 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Hereditary Breast and Ovarian Cancer 26 Gene Panel.

By Veritas Genetics Veritas Genetics in United States.

ABRAXAS1, XRCC2, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
34 %
Circulo Lung.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
34 %
Circulo Ovarian.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
34 %
Circulo Breast.

By Circulogene Theranostics in United States.

PTEN
Specificity
100 %
Genes
34 %
Hereditary Cancer Comprehensive Panel.

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

TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
34 %
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
67 %
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
67 %
Hereditary Cancer.

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

POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
2 %
Genes
67 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
COWDEN DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

BMPR1A, PTEN
Specificity
50 %
Genes
34 %
BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PTEN
Specificity
100 %
Genes
34 %
VATER-HYDROCEPHALUS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PTEN
Specificity
100 %
Genes
34 %
Cowden Syndrome , Deletions-Duplications (MLPA) PTEN Gene.

By Reference Laboratory Genetics in Spain.

PTEN
Specificity
100 %
Genes
34 %
Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

MSH3, ENG, SMAD4, BMPR1A, FLCN, STK11, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
8 %
Genes
34 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
34 %
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
5 %
Genes
34 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

DIS3L2, BAP1, MITF, MET, FLCN, SDHD, TSC1, TSC2, SDHB, FH, HNF1B, WT1, HNF1A, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PDGFB, SMARCB1, SMARCE1, LZTR1, SUFU, NF2, PTEN
Specificity
15 %
Genes
34 %
Uterine Cancer , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
17 %
Genes
34 %
Hereditary Thyroid Cancer , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
34 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BAP1, TERT, MITF, CDKN2A, CDK4, MC1R, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
34 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
34 %
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN
Specificity
7 %
Genes
34 %
Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

NTHL1, SMAD4, BMPR1A, STK11, PTEN, MUTYH, APC
Specificity
15 %
Genes
34 %
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

ERBB2, IDH1, EGFR, PIK3CA, LGI1, BRAF, PRKN, IDH2, RB1, TP53, PTEN, BRCA2
Specificity
9 %
Genes
34 %
Familial Meningioma , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MN1, PDGFB, SMARCE1, SUFU, NF2, PTEN
Specificity
17 %
Genes
34 %
genTrue.

By True Health Diagnostics in United States.

POLE, POLD1, RAD51D, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Phosphorus Breast Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
7 %
Genes
34 %
Phosphorus Colorectal Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

AXIN2, POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
34 %
Phosphorus Ovarian/Uterine Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, SMARCA4, RAD51D, RAD51C, BRIP1, PALB2, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
7 %
Genes
34 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
34 %
Phosphorus Melanoma Panel.

By Phosphorus Diagnostics LLC in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
34 %
Phosphorus Renal/Urinary Tract Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, DICER1, BAP1, SMARCB1, SMARCA4, MITF, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, TSC1, TSC2, SDHA, SDHB, FH, SDHC, WT1, TP53 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Phosphorus Thyroid Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
34 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
34 %
Phosphorus Common/High Risk Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

POLE, GREM1, POLD1, BAP1, MITF, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
67 %
Renal Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Renal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, BAP1, SMARCB1, CDC73, GPC3, MET, FLCN, SDHD, CDKN1C, PALB2, TSC1, TSC2, SDHB, FH, SDHC, WT1, TP53, PTEN, MLH1, MSH6 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

XRCC2, SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
34 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WEE1, ACVR1B, PTGFR, ZBED4, ZNF226, TRAF5, PPM1L, MAP2K4, PCGF2, PBRM1, FBXO32, EXOC2, NCOR1, MUC16, ESR1, KMT2C, ITCH, MYC, CBFB, ERBB2 , (...)

View the complete list with 25 more genes
Specificity
5 %
Genes
67 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

KREMEN1, USP16, MAS1L, CSMD3, FAT3, GABRA6, CCNE1, PPP2R1A, ERBB2, CDK12, PIK3R1, AKT1, CBLC, PDGFRA, EGFR, PIK3CA, KIT, ARID1A, CTNNB1, NF1 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
67 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPOP, ZNF473, THSD7B, ZNF595, KDM4B, NRCAM, OR5L1, PDZRN3, NKX3-1, NIPA2, KLF6, GLI1, MYC, CDK12, SCN11A, TBX20, PIK3CA, CDKN1B, AKAP9, MED12 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Cowden Syndrome: PTEN Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PTEN
Specificity
100 %
Genes
34 %
Endocrine Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AIP, CDKN1B, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
34 %
Endocrine Cancer: gene deletion/duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
8 %
Genes
34 %
Cowden Syndrome: PTEN Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PTEN
Specificity
100 %
Genes
34 %
Gastrointestinal and Colorectal Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLD1, SMAD4, BMPR1A, CHEK2, CDKN2A, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
34 %
High Risk Breast Cancer: Gene Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
34 %
High Risk Colorectal Cancer: Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC
Specificity
7 %
Genes
34 %
High Risk Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMAD4, BMPR1A, CHEK2, STK11, CDH1, ATM, BLM, TP53, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC
Specificity
7 %
Genes
34 %
Melanoma: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WRN, BAP1, MGMT, KIT, CDKN2A, CDK4, NRAS, RB1, TP53, PTEN, BRCA1
Specificity
10 %
Genes
34 %
Melanoma: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WRN, BAP1, KIT, CDKN2A, CDK4, NRAS, BRAF, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
34 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
34 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
34 %
PIK3R1 Sequencing.

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

PIK3R1
Specificity
100 %
Genes
34 %
PIK3R1 Deletion/duplication analysis.

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

PIK3R1
Specificity
100 %
Genes
34 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, LMNA, PPARG
Specificity
8 %
Genes
34 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Partial Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, LMNA, PPARG
Specificity
8 %
Genes
34 %
PIK3R1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PIK3R1
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
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
34 %
SHORT syndrome (sequence analysis of PIK3R1 gene).

By CGC Genetics in Portugal.

PIK3R1
Specificity
100 %
Genes
34 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Agammaglobulinemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IGHM, CD79B, CD79A, BLNK, LRRC8A, PIK3R1, SH2D1A, BTK
Specificity
13 %
Genes
34 %
Immunodeficiency type 36.

By Centogene AG - the Rare Disease Company in Germany.

PIK3R1
Specificity
100 %
Genes
34 %
SHORT syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PIK3R1
Specificity
100 %
Genes
34 %
Agammaglobulinemia type 7, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

PIK3R1
Specificity
100 %
Genes
34 %
Agammaglobulinemia panel.

By Centogene AG - the Rare Disease Company in Germany.

IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, PIK3R1, SH2D1A, BTK
Specificity
12 %
Genes
34 %
Antibody deficiencies Panel.

By CeGaT GmbH in Germany.

TNFSF12, IGKC, TCF3, IL21, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19, PIK3R1, NFKB2, LRBA, CD40LG , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Invitae Agammaglobulinemia Panel.

By Invitae in United States.

CD79B, IGLL1, CD79A, BLNK, PIK3R1, BTK
Specificity
17 %
Genes
34 %
PIK3R1.

By Fulgent Genetics Fulgent Genetics in United States.

PIK3R1
Specificity
100 %
Genes
34 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

NUTM2B, NUTM2A, SSX2, MALAT1, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, ACSL3, RABEP1, SSX1, SS18, POU5F1, HEY1, JUN , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
34 %
SHORT SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PIK3R1
Specificity
100 %
Genes
34 %
SHORT Syndrome , Sequencing PIK3R1 Gene.

By Reference Laboratory Genetics in Spain.

PIK3R1
Specificity
100 %
Genes
34 %
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, PIK3R1, SH2D1A, BTK
Specificity
12 %
Genes
34 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
SHORT Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PIK3R1
Specificity
100 %
Genes
34 %

Alternate names

Immunodeficiency 14; Imd14 Is also known as activated pi3k-delta syndrome;apds, p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency;pasli;apds; senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C NICOLAIDES-BARAITSER SYNDROME; NCBRS

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