Neuroblastoma, Susceptibility To

Description

Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998).Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; {115310}). Genetic Heterogeneity of Susceptibility to NeuroblastomaSusceptibility to neuroblastoma is genetically heterogeneous and is conferred by mutation in the PHOX2B gene (OMIM ) on chromosome 4p12 (NBLST2 ) and by mutation in the ALK gene (OMIM ) on chromosome 2p23 (NBLST3 ).Loci implicated in the development of neuroblastoma include 6p (NBLST4 ), 2q35 (NBLST5 ), and 1q21 (NBLST6 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Neuroblastoma, Susceptibility To

  • Ataxia
  • Failure to thrive
  • Milia
  • Anemia
  • Neoplasm
  • Hypertension
  • Fever
  • Diarrhea
  • Myoclonus
  • Abdominal pain
And another 18 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.


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Neuroblastoma, Susceptibility To Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
12 %
Genes
23 %
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
5 %
Genes
34 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

SMARCB1, NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, MEN1, RB1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
12 %
Genes
23 %
Hereditary Cancer Panel - Neuro17.

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

NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
12 %
Genes
23 %
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
8 %
Genes
23 %
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
3 %
Genes
23 %
ALK. Complete sequencing.

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

ALK
Specificity
100 %
Genes
12 %
Hereditary Brain Tumor Panel.

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

SMARCB1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
12 %
Genes
23 %
Hereditary hemorrhagic telangiectasia (deletion/duplication analysis of ENG, ALK and BMPR2 genes).

By CGC Genetics in Portugal.

BMPR2, ENG, ALK
Specificity
34 %
Genes
12 %
Detection by FISH of ALK rearrangements (del(2p); t(2;5)).

By CGC Genetics in Portugal.

ALK
Specificity
100 %
Genes
12 %
Neuroblastoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PHOX2B, ALK, KIF1B
Specificity
67 %
Genes
23 %
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
8 %
Genes
78 %
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
3 %
Genes
23 %
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
9 %
Genes
23 %
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
4 %
Genes
23 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
13 %
Genes
23 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL
Specificity
14 %
Genes
23 %
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
4 %
Genes
23 %
ALK.

By Fulgent Genetics Fulgent Genetics in United States.

ALK
Specificity
100 %
Genes
12 %
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
8 %
Genes
23 %
Onco microarray for CLL.

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

BCL3, FGF2, MYB, MYBL1, BCL10, BCL11A, MYC, BCL6, BCL2, CCND1, ITK, AKT1, IGH, ATM, ALK, TP53
Specificity
19 %
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
3 %
Genes
34 %
EML4-ALK Rearrangement.

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

ALK
Specificity
100 %
Genes
12 %
Focus::Oncomine™ NGS Panel.

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

JAK1, ESR1, ROS1, ERBB4, SMO, ERBB2, DDR2, AKT1, GNA11, IDH1, PDGFRA, JAK2, EGFR, GNAQ, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
23 %
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
13 %
Genes
45 %
Neuroblastoma.

By Bioarray in Spain.

ALK
Specificity
100 %
Genes
12 %
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
5 %
Genes
56 %
Thoracic Tumors Gene Set.

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

KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1 , (...)

View the complete list with 16 more genes
Specificity
9 %
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
2 %
Genes
78 %
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
10 %
Genes
56 %
Circulo Lung.

By Circulogene Theranostics in United States.

ALK
Specificity
100 %
Genes
12 %
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
3 %
Genes
78 %
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
2 %
Genes
78 %
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
5 %
Genes
78 %
Neuroblastoma , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

PHOX2B, ALK, NME1, KIF1B
Specificity
75 %
Genes
34 %
GeneStrat Genomic Test.

By Biodesix, Inc. Biodesix, Inc. in United States.

ROS1, EGFR, ALK, KRAS, BRAF, RET
Specificity
17 %
Genes
12 %
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
5 %
Genes
78 %
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
2 %
Genes
89 %
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
89 %
Brain, CNS, and PNS Cancer: Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
13 %
Genes
23 %
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
3 %
Genes
45 %
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
12 %
Genes
56 %
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
11 %
Genes
56 %
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
4 %
Genes
23 %
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
4 %
Genes
23 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
12 %
Genes
23 %
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
5 %
Genes
23 %
ALK. Sequencing of the exons 21-28.

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

ALK
Specificity
100 %
Genes
12 %
Neuroblastoma - ALK Sequence Analysis.

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

ALK
Specificity
100 %
Genes
12 %
Neuroblastoma -Sequence Analysis for ALK Ex 21-28 & PHOX2B Ex 1-3.

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

PHOX2B, ALK
Specificity
50 %
Genes
12 %
Neuroblastoma - ALK Known Point Mutation Analysis.

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

ALK
Specificity
100 %
Genes
12 %
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
2 %
Genes
23 %
Neuroblastoma (sequence analysis of ALK gene).

By CGC Genetics in Portugal.

ALK
Specificity
100 %
Genes
12 %
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
3 %
Genes
23 %
Hereditary Neuroblastoma via the ALK Gene.

By PreventionGenetics PreventionGenetics in United States.

ALK
Specificity
100 %
Genes
12 %
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
2 %
Genes
23 %
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
9 %
Genes
56 %
Neuroblastoma, susceptibility to, 3.

By Centogene AG - the Rare Disease Company in Germany.

ALK
Specificity
100 %
Genes
12 %
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
3 %
Genes
23 %
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
8 %
Genes
23 %
Invitae Familial Neuroblastoma Panel.

By Invitae in United States.

PHOX2B, ALK
Specificity
50 %
Genes
12 %
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
5 %
Genes
23 %
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
4 %
Genes
45 %
Onco microarray for MDS/AML.

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

SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3 , (...)

View the complete list with 40 more genes
Specificity
5 %
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
5 %
Genes
45 %
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
5 %
Genes
34 %
ALK Break Apart FISH.

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

ALK
Specificity
100 %
Genes
12 %
Liquid::Lung-cfDNA™ NGS Panel.

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

ROS1, ERBB2, EGFR, PIK3CA, MET, ALK, NRAS, MAP2K1, KRAS, BRAF, TP53
Specificity
28 %
Genes
34 %
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
11 %
Genes
45 %
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
9 %
Genes
67 %
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
10 %
Genes
56 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1 , (...)

View the complete list with 30 more genes
Specificity
10 %
Genes
56 %
Neuroblastoma Susceptibility to , Sequencing ALK Gene.

By Reference Laboratory Genetics in Spain.

ALK
Specificity
100 %
Genes
12 %
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
3 %
Genes
23 %
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
6 %
Genes
23 %
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
3 %
Genes
23 %
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
4 %
Genes
23 %
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, MEN1, TP53, MLH1, MSH6, MSH2, APC, VHL
Specificity
14 %
Genes
23 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MYC, IDH1, MYD88, PDGFRA, TET2, ABL1, JAK2, NPM1, FLT3, ASXL1, KIT, KMT2A, DNMT3A, NOTCH1, NF1, MPL, CEBPA, ALK, PTPN11, BRAF , (...)

View the complete list with 3 more genes
Specificity
18 %
Genes
45 %
Detection by FISH of C-MYC (8q24) rearrangements.

By CGC Genetics in Portugal.

MYC
Specificity
100 %
Genes
12 %
Detection by FISH of t(8;14) MYC/IGH.

By CGC Genetics in Portugal.

MYC, IGH
Specificity
50 %
Genes
12 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WNK2, ADGRB3, SSTR1, TRRAP, LRP1B, LPAR2, GPR78, ATP4A, CCNE1, TRIO, DCC, MYC, ERBB2, PRKDC, FBXW7, PIK3CA, SPEG, NOTCH1, CTNNB1, S1PR2 , (...)

View the complete list with 9 more genes
Specificity
11 %
Genes
34 %
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
11 %
Genes
34 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

ABI1, DLEU1, CRLF2, CDKN2C, CKS1B, MECOM, MYC, BCL6, PBX1, TCF3, RARA, CBFB, PML, BCL2, PDGFRB, RUNX1T1, BCR, ETV6, PDGFRA, ABL1 , (...)

View the complete list with 9 more genes
Specificity
11 %
Genes
34 %
FISH, Lymphoma Panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette in United States.

MYC, BCL6, MALT1, BCL2, CCND1, IGH
Specificity
17 %
Genes
12 %
MYC.

By Fulgent Genetics Fulgent Genetics in United States.

MYC
Specificity
100 %
Genes
12 %
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
23 %
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
23 %
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
9 %
Genes
45 %
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
9 %
Genes
45 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
Neuroblastoma (sequence analysis of NME1 gene).

By CGC Genetics in Portugal.

NME1
Specificity
100 %
Genes
12 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
34 %
NME1.

By Fulgent Genetics Fulgent Genetics in United States.

NME1
Specificity
100 %
Genes
12 %
TP53 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TP53
Specificity
100 %
Genes
12 %
TP53 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

TP53
Specificity
100 %
Genes
12 %
Hereditary Melanoma Panel.

By Baylor Miraca Genetics Laboratories in United States.

CDKN2A, CDK4, TP53, BRCA2
Specificity
25 %
Genes
12 %
Hereditary Prostate Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

CHEK2, NBN, TP53, BRCA2, BRCA1
Specificity
20 %
Genes
12 %
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
12 %
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
12 %
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
12 %
TP53 full gene sequencing.

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

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
Tier 1: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

NPAT, POT1, TERF2IP, KLHDC8B, ACD, CHEK2, TP53, MLH1, MSH6, PMS2, MSH2
Specificity
10 %
Genes
12 %
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
12 %
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
4 %
Genes
23 %
Hereditary Melanoma Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WRN, POT1, ACD, POLE, BAP1, CDKN2A, CDK4, MC1R, TP53, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAD51, UBE2T, SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, ETV6, IKZF1, USB1 , (...)

View the complete list with 59 more genes
Specificity
3 %
Genes
23 %
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
12 %
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
12 %
TP53.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
Li-Fraumeni Syndrome (TP53) Sequencing and Deletion/Duplication.

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

TP53
Specificity
100 %
Genes
12 %
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
12 %
TP53 Gene Sequencing.

By GeneDx in United States.

TP53
Specificity
100 %
Genes
12 %
Breast Cancer High Risk Panel and PALB2.

By GeneDx in United States.

CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
17 %
Genes
12 %
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
12 %
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
12 %
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
12 %
Endometrial Cancer Panel.

By GeneDx in United States.

POLD1, CHEK2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
9 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
12 %
Hereditary Cancer Panel - Pancreatic14.

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

CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
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
12 %
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
12 %
Li-Fraumeni syndrome.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
ProstateNext.

By Ambry Genetics in United States.

HOXB13, RAD51D, CHEK2, PALB2, NBN, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
PancNext.

By Ambry Genetics in United States.

CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
TP53. Complete sequencing.

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

TP53
Specificity
100 %
Genes
12 %
TP53 sequencing.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
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
12 %
Hereditary Pancreatic Cancer Panel.

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

PRSS1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
6 %
Genes
12 %
Hereditary Prostate Cancer Panel.

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

CHEK2, NBN, TP53, BRCA2, BRCA1
Specificity
20 %
Genes
12 %
Li-Fraumeni syndrome (sequence analysis of TP53 gene).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
TP53 gene (deletion/duplication analysis).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
Familial breast/ovarian cancer (sequence analysis of TP53 gene).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
Adrenocortical hereditary carcinoma (sequence analysis of TP53 gene).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
Hereditary Ovarian Cancer.

By Laboratory of Genetics HUSLAB in Finland.

RAD51, RAD51D, BARD1, RAD51C, BRIP1, RAD50, NBN, MRE11, TP53, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
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
12 %
Pancreatic Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PALLD, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
7 %
Genes
12 %
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
12 %
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
12 %
Prostate Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HOXB13, RAD51D, RAD51C, BRIP1, CHEK2, PALB2, NBN, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
7 %
Genes
12 %
Li-Fraumeni Syndrome.

By MGZ Medical Genetics Center in Germany.

TP53
Specificity
100 %
Genes
12 %
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
12 %
Ovarian Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

RAD51D, RAD51C, BRIP1, CHEK2, PALB2, NBN, TP53, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
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
12 %
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
12 %
Basal cell carcinoma type 7, susceptibility to, somatic.

By Centogene AG - the Rare Disease Company in Germany.

TP53
Specificity
100 %
Genes
12 %
Nasopharyngeal carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
Li-Fraumeni syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

TP53
Specificity
100 %
Genes
12 %
FISH, CLL panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette in United States.

ATM, TP53
Specificity
50 %
Genes
12 %
FISH, Myeloma Panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
Li fraumeni, TP53.

By GGA - Galil Genetic Analysis in Israel.

TP53
Specificity
100 %
Genes
12 %
Breast and Ovarian Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

CHD1, RAD51, XRCC2, FANCD2, FANCE, FANCF, FANCG, FANCA, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, PALB2, NBN, MRE11, ATM, KRAS, FANCC , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
12 %
Thyroid Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

DICER1, CDC73, PRKAR1A, SDHD, MEN1, SDHB, RET, TP53, PTEN, APC
Specificity
10 %
Genes
12 %
Li-Fraumeni syndrome (TP53).

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

TP53
Specificity
100 %
Genes
12 %
NGS HemeOnc Panel.

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

CSF3R, ETV6, IDH1, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, SH2B3, ASXL1, KIT, EZH2, DNMT3A, SETBP1, PHF6, MPL, CEBPA , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
23 %
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
12 %
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
3 %
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
12 %
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
12 %
qCancer Mama.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
12 %
Genes
12 %
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
12 %
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
12 %
Breast cancer.

By MedGene in Slovakia.

TP53
Specificity
100 %
Genes
12 %
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
12 %
Invitae Li-Fraumeni Syndrome Test.

By Invitae in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
Invitae Gastric Cancer Panel.

By Invitae in United States.

PDGFRA, KIT, NF1, SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHA, SDHB, SDHC, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
6 %
Genes
12 %
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
12 %
Invitae Melanoma Panel.

By Invitae in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
12 %
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
12 %
Invitae Pediatric Hematologic Malignancies Panel.

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
12 %
Invitae Myelodysplastic Syndrome/Leukemia Panel.

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
12 %
Invitae Pancreatic Cancer Panel.

By Invitae in United States.

NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
5 %
Genes
12 %
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
12 %
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
12 %
TP53: TP53 gene sequence analysis.

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

TP53
Specificity
100 %
Genes
12 %
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
3 %
Genes
23 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
Pancreatic Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
12 %
Ovarian Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RAD51D, BARD1, RAD51C, BRIP1, STK11, NBN, MRE11, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
7 %
Genes
12 %
Melanoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
12 %
Pancreatic Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NF1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
12 %
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
12 %
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
12 %
Ovarian Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SMARCA4, RAD51D, BARD1, RAD51C, BRIP1, STK11, NBN, MRE11, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
6 %
Genes
12 %
Prostate Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HOXB13, CHEK2, NBN, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
Sarcoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
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
12 %
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
12 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

DDX41, SAMD9L, ETV6, IKZF1, SRP72, FANCA, TERT, TERC, DKC1, NF1, CEBPA, SBDS, PAX5, GATA2, CDKN2A, NBN, ATM, CBL, MAP2K2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
6 %
Genes
23 %
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
12 %
Hereditary Pancreatic Cancer Panel.

By Blueprint Genetics in Finland.

BUB1B, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
12 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 219 more genes
Specificity
1 %
Genes
23 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 102 more genes
Specificity
2 %
Genes
23 %
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
12 %
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
12 %
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
12 %
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
12 %
Hereditary Breast Cancer High Risk Panel.

By Blueprint Genetics in Finland.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
12 %
BreastTrue.

By Pathway Genomics in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
12 %
TP53 Mutation Analysis.

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

TP53
Specificity
100 %
Genes
12 %
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
4 %
Genes
23 %
Focus::MDS™ NGS Panel.

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

ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, JAK2, FLT3, ASXL1, KMT2A, KDM6A, EZH2, DNMT3A, SETBP1, CEBPA, CBL, PTPN11, NRAS , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
23 %
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
3 %
Genes
12 %
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
12 %
Li-Fraumeni syndrome.

By Bioarray in Spain.

TP53
Specificity
100 %
Genes
12 %
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
23 %
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
2 %
Genes
23 %
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
2 %
Genes
23 %
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
12 %
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
12 %
Circulo Lung.

By Circulogene Theranostics in United States.

TP53
Specificity
100 %
Genes
12 %
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
3 %
Genes
23 %
ADRENOCORTICAL CARCINOMA, PEDIATRIC.

By Laboratorio de Genetica Clinica SL in Spain.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes.

By Reference Laboratory Genetics in Spain.

DICER1, WRN, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHB, FH, SDHC, SDHAF2, RB1, TP53, RECQL4, MLH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
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
17 %
Genes
23 %
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
12 %
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
12 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

By Phosphorus Diagnostics LLC in United States.

ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, TERT, TERC, DKC1, FANCB, NF1, RAD51C, CEBPA, GATA2, BRIP1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
12 %
Phosphorus Melanoma Panel.

By Phosphorus Diagnostics LLC in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
12 %
Phosphorus Prostate Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

HOXB13, RAD51D, CHEK2, NBN, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
12 %
Prostate cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CHEK2, NBN, TP53, BRCA2, BRCA1
Specificity
20 %
Genes
12 %
TP53 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TP53
Specificity
100 %
Genes
12 %
TP53 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TP53
Specificity
100 %
Genes
12 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
12 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
12 %
Hereditary Pancreatic Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

RAD50, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1
Specificity
6 %
Genes
12 %
Hereditary Leukemia/Lymphoma Panel.

By Baylor Miraca Genetics Laboratories in United States.

PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, PALB2, ATM, CBL, PTPN11, TP53, RUNX1, BRCA2
Specificity
16 %
Genes
23 %
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
12 %
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
12 %
Test for Li-Fraumeni Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

TP53
Specificity
100 %
Genes
12 %
Li-Fraumeni Syndrome (P53).

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

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
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
4 %
Genes
23 %
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
4 %
Genes
23 %
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
12 %
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
12 %
VistaSeq Pancreatic Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
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
12 %
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
12 %
Li-Fraumeni syndrome.

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

TP53
Specificity
100 %
Genes
12 %
Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel.

By Genetic Services Laboratory University of Chicago in United States.

NF1, CHEK2, ATM, CBL, PTPN11, BLM, TP53, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1
Specificity
16 %
Genes
23 %
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
7 %
Genes
23 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL).

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, RTEL1, CEBPA, PAX5, GATA2, ANKRD26, TP53, RUNX1
Specificity
7 %
Genes
12 %
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
16 %
Genes
23 %
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
12 %
BRCA1, BRCA2, and TP53 Mutation Analysis.

By Genetic Services Laboratory University of Chicago in United States.

TP53, BRCA2, BRCA1
Specificity
34 %
Genes
12 %
Li Fraumeni Syndrome.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
Li-Fraumeni (TP53) Sequencing.

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

TP53
Specificity
100 %
Genes
12 %
Li-Fraumeni Syndrome (TP53) Deletion/Duplication.

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

TP53
Specificity
100 %
Genes
12 %
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
12 %
Breast Cancer High/Moderate Risk Panel.

By GeneDx in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
12 %
Breast Cancer High Risk Panel.

By GeneDx in United States.

CDH1, TP53, PTEN, BRCA2, BRCA1
Specificity
20 %
Genes
12 %
Pancreatic Cancer Panel.

By GeneDx in United States.

XRCC2, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
7 %
Genes
12 %
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
12 %
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
12 %
BRCAplus.

By Ambry Genetics in United States.

CHEK2, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
13 %
Genes
12 %
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
12 %
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
12 %
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
12 %
MelanomaNext.

By Ambry Genetics in United States.

BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
13 %
Genes
12 %
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
12 %
GYNplus.

By Ambry Genetics in United States.

RAD51D, RAD51C, BRIP1, PALB2, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
TP53 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

TP53
Specificity
100 %
Genes
12 %
TP53. Complete sequencing.

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

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
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
12 %
Breast cancer (NGS panel for 10 genes).

By CGC Genetics in Portugal.

RAD51D, RAD51C, BRIP1, CHEK2, CDH1, PALB2, ATM, TP53, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
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
12 %
Osteosarcoma (sequence analysis of TP53 gene).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
Tumor protein p53 (sequence analysis of TP53 gene).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
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
12 %
Detection by FISH of TP53 (17p13.1) deletion/amplification.

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
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
12 %
Li-Fraumeni syndrome (deletions/duplicactions analysis of TP53 gene).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
Li-Fraumeni syndrome (deletions/duplicactions analysis of TP53 gene).

By CGC Genetics in Portugal.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
12 %
Breast Cancer - High Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
17 %
Genes
12 %
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DDX41, SAMD9L, ETV6, SRP72, TERT, TERC, CEBPA, GATA2, ANKRD26, TP53, RUNX1
Specificity
10 %
Genes
12 %
Li-Fraumeni Syndrome via TP53 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
12 %
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
5 %
Genes
23 %
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
12 %
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
12 %
Ovarian Cancer.

By MGZ Medical Genetics Center in Germany.

CEP57, BUB1B, DICER1, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, RAD51D, RAD51C, BRIP1, CHEK2, PALB2, NBN, ATM, FANCC , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
12 %
Gastric Cancer.

By MGZ Medical Genetics Center in Germany.

PMS1, BMPR1A, CHEK2, STK11, CDH1, TP53, MLH1, MSH6, PMS2, MSH2
Specificity
10 %
Genes
12 %
Li Fraumeni syndrome.

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

TP53
Specificity
100 %
Genes
12 %
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
4 %
Genes
23 %
Glioma susceptibility 1, susceptibility to, somatic.

By Centogene AG - the Rare Disease Company in Germany.

TP53
Specificity
100 %
Genes
12 %
Hepatocellular carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

TP53
Specificity
100 %
Genes
12 %
Pancreatic cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
TP53.

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

TP53
Specificity
100 %
Genes
12 %
Li-Fraumeni Syndrome.

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

TP53
Specificity
100 %
Genes
12 %
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
7 %
Genes
23 %
Pancreatic cancer Panel.

By CeGaT GmbH in Germany.

PALLD, PRSS1, SPINK1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
6 %
Genes
12 %
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
12 %
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
12 %
Breast and Ovarian Cancer Panel.

By CeGaT GmbH in Germany.

RAD51D, RAD51C, CHEK2, STK11, CDH1, PALB2, ATM, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
Li-Fraumeni syndrome, TP53 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

TP53
Specificity
100 %
Genes
12 %
Hereditary breast and ovarian cancer syndrome (BRCA1, BRCA2, TP53, PALB2, CHEK2).

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

CHEK2, PALB2, TP53, BRCA2, BRCA1
Specificity
20 %
Genes
12 %
TP53 Exons 2-11 Mutation Analysis (Tumor).

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

TP53
Specificity
100 %
Genes
12 %
TP53 Exons 2-11 Sequence Analysis (Li-Fraumeni).

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

TP53
Specificity
100 %
Genes
12 %
Breast cancer.

By Praxis fuer Humangenetik Wien in Austria.

TP53
Specificity
100 %
Genes
12 %
Li-Fraumeni syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

TP53
Specificity
100 %
Genes
12 %
Li-Fraumeni syndrome 1.

By MedGene in Slovakia.

TP53
Specificity
100 %
Genes
12 %
Invitae Sarcoma Panel.

By Invitae in United States.

DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Invitae Thyroid Cancer Panel.

By Invitae in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
12 %
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
12 %
Invitae Prostate Cancer Panel.

By Invitae in United States.

HOXB13, CHEK2, NBN, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
9 %
Genes
12 %
Invitae Breast Cancer STAT Panel.

By Invitae in United States.

STK11, CDH1, PALB2, TP53, PTEN, BRCA2, BRCA1
Specificity
15 %
Genes
12 %
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
12 %
Li-Fraumeni Syndrome: TP53 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TP53
Specificity
100 %
Genes
12 %
Li-Fraumeni Syndrome: TP53 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BAP1, PRSS1, SMAD4, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
7 %
Genes
12 %
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
12 %
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
12 %
TP53 Full Gene Sequencing.

By Fulgent Genetics Fulgent Genetics in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
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
3 %
Genes
34 %
Li-Fraumeni Syndrome: TP53 Gene Deletion/Duplication Analysis.

By Fulgent Genetics Fulgent Genetics in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
TP53.

By Fulgent Genetics Fulgent Genetics in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
Prostate Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CHEK2, NBN, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
Hematologic Malignancy Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
12 %
Gastric Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PDGFRA, KIT, NF1, SMAD4, BMPR1A, STK11, CDH1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC
Specificity
8 %
Genes
12 %
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
12 %
TP53 Sequencing and Deletion/Duplication.

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

TP53
Specificity
100 %
Genes
12 %
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
12 %
BREASTON-EXTENDED.

By PentaCoreLab in Hungary.

DIRAS3, ERBB2, RAD51, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, KRAS, TP53, BRCA2, BRCA1
Specificity
7 %
Genes
12 %
Onco microarray for ALL.

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

BTG1, EBF1, PDGFRB, ETV6, IKZF1, JAK2, PAX5, CDKN2A, RB1, TP53
Specificity
10 %
Genes
12 %
Hereditary Lung Cancer Panel.

By Blueprint Genetics in Finland.

EGFR, CDKN2A, TP53, BRCA2
Specificity
25 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
4 %
Genes
23 %
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
12 %
Focus::MPN™ NGS Panel.

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

CSF3R, IDH1, MYD88, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, FLT3, CALR, JAK3, ASXL1, KIT, EZH2, DNMT3A, GATA1, SETBP1, MPL, CEBPA , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
Focus::AML™ NGS Panel.

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

BCORL1, CSF3R, ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, CALR, ASXL1, KIT, KMT2A, KDM6A, EZH2 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
23 %
Adrenocortical carcinoma.

By Bioarray in Spain.

TP53
Specificity
100 %
Genes
12 %
Hematopoietic Disorders Gene Set.

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

TSLP, FGFR4, TET1, BIRC3, PDGFRB, NOTCH2, IL7R, CSF3R, ETV6, FBXW7, IDH1, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
23 %
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
8 %
Genes
34 %
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
23 %
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
6 %
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
4 %
Genes
23 %
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
12 %
Genetic Test of single known genetic variant.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

GNAS, PKD1, PKD2, TSC1, TSC2, MEN1, RET, TP53, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
Circulo Gastric.

By Circulogene Theranostics in United States.

TP53
Specificity
100 %
Genes
12 %
Circulo Hematological.

By Circulogene Theranostics in United States.

TP53
Specificity
100 %
Genes
12 %
Circulo Pancreatic.

By Circulogene Theranostics in United States.

TP53
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
LI-FRAUMENI SYNDROME TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

TP53
Specificity
100 %
Genes
12 %
OSTEOSARCOMA.

By Laboratorio de Genetica Clinica SL in Spain.

TP53
Specificity
100 %
Genes
12 %
TP53 sequencing and deletion/duplication.

By Children's Hospital of Los Angeles, Center for Personalized Medicine in United States.

TP53
Specificity
100 %
Genes
12 %
Li Fraumeni Syndrome, Sequencing TP53 Gene.

By Reference Laboratory Genetics in Spain.

TP53
Specificity
100 %
Genes
12 %
Li Fraumeni Syndrome, Deletions-Duplications (MLPA) TP53 Gene.

By Reference Laboratory Genetics in Spain.

TP53
Specificity
100 %
Genes
12 %
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) BRCA1,BRCA2,TP53,PALB2 Genes.

By Reference Laboratory Genetics in Spain.

PALB2, TP53, BRCA2, BRCA1
Specificity
25 %
Genes
12 %
Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

MLH3, TGFBR2, SMAD4, CDKN2A, STK11, PALB2, KRAS, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1
Specificity
7 %
Genes
12 %
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
12 %
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
12 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

SH3GL1, LPP, CBFB, PICALM, IDH1, JAK2, NPM1, FLT3, ASXL1, KIT, TERT, TERC, DNMT3A, CEBPA, GATA2, NSD1, KRAS, IDH2, WT1, TP53 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
12 %
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
12 %
Phosphorus Leukemia Panel.

By Phosphorus Diagnostics LLC in United States.

TERT, TERC, DKC1, NF1, CEBPA, GATA2, NBN, ATM, TINF2, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
6 %
Genes
12 %
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
12 %
Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel.

By Phosphorus Diagnostics LLC in United States.

CTRC, PRSS1, SPINK1, CASR, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, CFTR, MEN1, TP53, MLH1, MSH6, PMS2, MSH2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
Phosphorus Pancreatic Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
5 %
Genes
12 %
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
12 %
Phosphorus Thyroid Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
12 %
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
12 %
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
12 %
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
12 %
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
6 %
Genes
23 %
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
23 %
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
12 %
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
12 %
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
12 %
Li-Fraumeni Syndrome: TP53 Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TP53
Specificity
100 %
Genes
12 %
Pancreatic Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PRSS1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
Pancreatic Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PRSS1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1
Specificity
8 %
Genes
12 %
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
7 %
Genes
23 %
Li-Fraumeni Syndrome: TP53 Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TP53
Specificity
100 %
Genes
12 %
Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SF3B4, ZSWIM6, ALX3, PDE4D, ALX1, MYCN, EVC2, EVC, EFTUD2, EFNB1, ALX4, POLR1D, TCOF1, POLR1C, PRKAR1A, CHD7, DHODH
Specificity
6 %
Genes
12 %
MYCN Gene Sequencing.

By GeneDx in United States.

MYCN
Specificity
100 %
Genes
12 %
MYCN. Complete sequencing.

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

MYCN
Specificity
100 %
Genes
12 %
Craniofacial Del/Dup Panel.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region).

By CGC Genetics in Portugal.

MYCN, FOXC2, FOXF1
Specificity
34 %
Genes
12 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region).

By CGC Genetics in Portugal.

MYCN, FOXC2, FOXF1
Specificity
34 %
Genes
12 %
RB1 testing for Retinoblastoma.

By Impact Genetics Impact Genetics in Canada.

MYCN, RB1
Specificity
50 %
Genes
12 %
Feingold Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

MYCN
Specificity
100 %
Genes
12 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
12 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
23 %
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
45 %
Feingold Syndrome 1.

By Bioscientia GmbH Center for Human Genetics in Germany.

MYCN
Specificity
100 %
Genes
12 %
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
56 %
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
23 %
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
23 %
Single gene testing MYCN.

By CeGaT GmbH in Germany.

MYCN
Specificity
100 %
Genes
12 %
Feingold syndrome: deletions-duplications analysis (MLPA) MYCN gene.

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

MYCN
Specificity
100 %
Genes
12 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, PTHLH, ARHGAP31, HOXD13, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
12 %
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 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
34 %
MYCN.

By Fulgent Genetics Fulgent Genetics in United States.

MYCN
Specificity
100 %
Genes
12 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

WDR73, TUBGCP6, TUBGCP4, SEPSECS, AMPD2, PLK4, XRCC4, CEP63, MFSD2A, KATNB1, RTTN, LIG4, NHEJ1, AKT3, MYCN, EFTUD2, KIF11, STAMBP, CENPF, ATR , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
12 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

NOG, IHH, BMP2, GDF5, PTHLH, HOXD13, PTDSS1, PDE4D, CCNQ, ROR2, HOXA13, ESCO2, MYCN, GNAS, BMPR1B, TP63, SOX9, CHSY1, DHCR7, RECQL4
Specificity
5 %
Genes
12 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
2 %
Genes
45 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
2 %
Genes
45 %
Feingold syndrome.

By Bioarray in Spain.

MYCN
Specificity
100 %
Genes
12 %
FEINGOLD SYNDROME TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

MYCN
Specificity
100 %
Genes
12 %
Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

MIR17HG, SF3B4, MYCN, EVC, EFTUD2, POLR1D, TCOF1, POLR1C, CHD7, DHODH
Specificity
10 %
Genes
12 %
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
2 %
Genes
23 %
Microcephaly.

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

MYCN, RBBP8, IER3IP1, RAB18, RAB3GAP2, ATR, PCNT, CDK5RAP2, CEP152, ZEB2, CASK, ATRX, TCF4, STIL, RAB3GAP1, CENPJ, ASPM, MCPH1, NIPBL, WDR62 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
12 %
Feingold Syndrome 1.

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

MYCN
Specificity
100 %
Genes
12 %
Craniofacial Seq + Del/Dup Panel.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
Craniofacial Seq Analysis.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
Feingold syndrome (sequence analysis of MYCN gene).

By CGC Genetics in Portugal.

MYCN
Specificity
100 %
Genes
12 %
Detection by FISH of MYCN.

By CGC Genetics in Portugal.

MYCN
Specificity
100 %
Genes
12 %
Feingold syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MYCN
Specificity
100 %
Genes
12 %
Feingold syndrome: MYCN gene sequence analysis.

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

MYCN
Specificity
100 %
Genes
12 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
12 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
34 %
Facial Dysostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

LIFR, DLL3, SF3B4, ALX3, SRCAP, MYCN, EVC2, EVC, EFTUD2, EFNB1, EP300, ALX4, TWIST1, UBE2A, EHMT1, POLR1D, TCOF1, POLR1C, HSPG2, NIPBL , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
12 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics in Finland.

CLMP, TTC7A, PTF1A, RFX6, MYCN, EFTUD2, GLI3, FANCB, MID1, DHCR7, CHD7, FANCC, SOX2
Specificity
8 %
Genes
12 %
Feingold Syndrome, Sequencing MYCN Gene.

By Reference Laboratory Genetics in Spain.

MYCN
Specificity
100 %
Genes
12 %
Normosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1
Specificity
15 %
Genes
12 %
Anosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, FGFR1
Specificity
15 %
Genes
12 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
12 %
NGS Craniosynostosis Panel.

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

TWIST1, MSX2, POR, RAB23, FGFR1, FGFR2, RECQL4
Specificity
15 %
Genes
12 %
FGFR1-Related Disorders - FGFR1 Sequencing.

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

FGFR1
Specificity
100 %
Genes
12 %
Test for Pfeiffer syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

FGFR1, FGFR2
Specificity
50 %
Genes
12 %
Craniodysmorphology Screen (Targeted FGFR1,2, and 3).

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

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
12 %
Holoprosencephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
12 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
6 %
Genes
12 %
FGFR1 Gene Sequencing.

By GeneDx in United States.

FGFR1
Specificity
100 %
Genes
12 %
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
3 %
Genes
23 %
Craniosynostosis Next Generation Sequencing Panel.

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

TWIST1, FGFR1, FGFR2, FGFR3
Specificity
25 %
Genes
12 %
Craniosynostosis Panel.

By Molecular Genetics Laboratory Children's Mercy Hospital and Clinics in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
12 %
FGFR1-Related Craniosynostosis.

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
12 %
Craniosynostosis (NGS panel for 4 genes).

By CGC Genetics in Portugal.

TWIST1, FGFR1, FGFR2, FGFR3
Specificity
25 %
Genes
12 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
12 %
Pfeiffer syndrome (sequence analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
12 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, SEMA3A, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Pfeiffer syndrome (deletions/duplications analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
12 %
Osteoglophonic dysplasia.

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

FGFR1
Specificity
100 %
Genes
12 %
FGFR1-Related Disorders via the FGFR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

FGFR1
Specificity
100 %
Genes
12 %
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IL17RD, SOX10, ANOS1, FGF8, PROK2, PROKR2, GNRHR, TACR3, FGFR1, CHD7
Specificity
10 %
Genes
12 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
12 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
23 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
2 %
Genes
23 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
FGFR1-related craniosynostosis.

By Institute of Human Genetics Cologne University in Germany.

FGFR1
Specificity
100 %
Genes
12 %
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 %
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 %
Kallmann Syndrome 2.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Jackson-Weiss syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Hartsfield syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Kallmann syndrome.

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

ANOS1, FGF8, PROK2, PROKR2, FGFR1, CHD7
Specificity
17 %
Genes
12 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

TCF12, ERF, MEGF8, FREM1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, SKI, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
5 %
Genes
12 %
FGFR1-Related Craniosynostosis.

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

FGFR1
Specificity
100 %
Genes
12 %
FGFR1-Related Craniosynostosis.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR1
Specificity
100 %
Genes
12 %
Jackson-Weiss syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
12 %
FGFR1 Gene Sequencing.

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

FGFR1
Specificity
100 %
Genes
12 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
12 %
Osteoglophonic dysplasia.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
12 %
Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel.

By Invitae in United States.

ANOS1, FGFR1, CHD7
Specificity
34 %
Genes
12 %
Craniosynostosis: FGFR1 gene (exon 7), FGFR2 gene (exon 7) and FGFR3 gene (exons 6, 8) sequence analysis.

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

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
12 %
Pfeiffer syndrome: FGFR1 gene (exon 7) and FGFR2 gene (exons 7-8, 13-15) screening.

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

FGFR1, FGFR2
Specificity
50 %
Genes
12 %
Craniosysostosis.

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

FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
6 %
Genes
12 %
FGFR1 - Mutation-specific testing.

By Genome Diagnostics VU University Medical Center in Netherlands.

FGFR1
Specificity
100 %
Genes
12 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
12 %
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

KISS1, TAC3, NSMF, ANOS1, FGF8, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
8 %
Genes
12 %
FGFR-Related Craniosynostosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
12 %
KidneySeq - 264 Genes.

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

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

View the complete list with 232 more genes
Specificity
1 %
Genes
12 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
12 %
FGFR1 amplification FISH.

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

FGFR1
Specificity
100 %
Genes
12 %
Kallman syndrome, type 2.

By Bioarray in Spain.

FGFR1
Specificity
100 %
Genes
12 %
Kallmann Syndrome NGS and Deletion/Duplication Panel.

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

ANOS1, FGF8, PROK2, PROKR2, GNRHR, FGFR1, CHD7
Specificity
15 %
Genes
12 %
FGFR1 Gene Sequencing and Deletion/Duplication Analysis.

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

FGFR1
Specificity
100 %
Genes
12 %
Circulo Breast.

By Circulogene Theranostics in United States.

FGFR1
Specificity
100 %
Genes
12 %
CRANIOSYNOSTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
12 %
PFEIFFER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR1, FGFR2
Specificity
50 %
Genes
12 %
Kallmann syndrome/gonadotropin-releasing hormone deficiency panel.

By LifeLabs Genetics in Canada.

TAC3, SEMA3A, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
10 %
Genes
12 %
Kallmann Syndrome Type 2, Sequencing FGFR1 Gene.

By Reference Laboratory Genetics in Spain.

FGFR1
Specificity
100 %
Genes
12 %
Kallmann Type 2 Syndrome , Deletions-Duplications (MLPA) FGFR1 Gene.

By Reference Laboratory Genetics in Spain.

FGFR1
Specificity
100 %
Genes
12 %
Jackson-Weiss syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR1, FGFR2
Specificity
50 %
Genes
12 %
Pfeiffer syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR1, FGFR2
Specificity
50 %
Genes
12 %
Hartsfield Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FGFR1
Specificity
100 %
Genes
12 %
FGFR1 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

FGFR1
Specificity
100 %
Genes
12 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
10 %
Genes
12 %
FGFR1-Related Disorders - Del/Dup Analysis.

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

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer Syndrome - FGFR1 Sequencing.

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

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer Syndrome.

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

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
12 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
12 %
Craniosynostosis.

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

IFT122, IL11RA, IFT43, MASP1, ASXL1, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
12 %
Hypogonadotropic Hypogonadism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
6 %
Genes
12 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...)

View the complete list with 41 more genes
Specificity
4 %
Genes
23 %
Kallmann Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

KISS1, TAC3, WDR11, FGF17, LHB, FEZF1, NSMF, IL17RD, ANOS1, FGF8, PROK2, PROKR2, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
6 %
Genes
12 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
12 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
12 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
12 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
12 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
12 %
Craniosynostosis.

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

TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, ASXL1, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
FGFR1. Complete sequencing.

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

FGFR1
Specificity
100 %
Genes
12 %
FGFR1. MLPA testing.

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

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer Syndrome - FGFR1 Exon 5 and FGFR2 Exons 8 and 10 Sequence Analysis.

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

FGFR1, FGFR2
Specificity
50 %
Genes
12 %
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes).

By CGC Genetics in Portugal.

FGFR1, FGFR2
Specificity
50 %
Genes
12 %
Trigonocephaly (sequence analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
12 %
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes).

By CGC Genetics in Portugal.

ALX3, ALX1, EFNB1, ALX4, TWIST1, MSX2, FGFR1, FGFR2, RUNX2, FGFR3
Specificity
10 %
Genes
12 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, SEMA3A, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Pfeiffer syndrome (deletions/duplications analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
12 %
Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
12 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SF3B4, TCF12, SRCAP, EFTUD2, EP300, TWIST1, POLR1D, TCOF1, POLR1C, FGFR1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, CREBBP, FGFR3, DHODH
Specificity
6 %
Genes
12 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CCDC141, AXL, HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, FEZF1, NSMF, SEMA3A, IL17RD, LHX3, LHX4, SOX3, SEMA3E, SOX10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, NR3C1, KISS1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
12 %
Craniosynostosis core NGS panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
12 %
Craniosynostosis core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
12 %
Craniosynostosis core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
12 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Kallmann syndrome 2.

By Institute of Human Genetics Cologne University in Germany.

FGFR1
Specificity
100 %
Genes
12 %
FGFR1-Related Craniosynostosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Kallmann syndrome.

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

TNNI3, FGFR1
Specificity
50 %
Genes
12 %
Kallmann syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Osteoglophonic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Hartsfield syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Craniosynostosis, FGFR1 related.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Trigonocephaly type 1.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Jackson-Weiss syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Osteoglophonic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Trigonocephaly type 1.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Craniosynostosis, FGFR1 related.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
12 %
FGFR1-related craniosynostosis.

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

FGFR1
Specificity
100 %
Genes
12 %
Craniosynostosis.

By Asper Biogene Asper Biogene LLC in Estonia.

IL11RA, TWIST1, MSX2, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
15 %
Genes
12 %
FGFR1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

FGFR1
Specificity
100 %
Genes
12 %
Kallmann syndrome 2.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
12 %
Osteoglophonic dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
12 %
Trigonocephaly 1.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
12 %
Jackson-Weiss syndrome.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
12 %
Kallmann syndrome 2.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer syndrome.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
12 %
Trigonocephaly 1.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
12 %
Invitae Craniosynostosis Panel.

By Invitae in United States.

ERF, MEGF8, GLI3, TWIST1, MSX2, RAB23, FGFR1, FGFR2, FGFR3
Specificity
12 %
Genes
12 %
Kallmann syndrome type 2: FGFR1 gene sequence analysis.

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

FGFR1
Specificity
100 %
Genes
12 %
Pfeiffer type 1, Syndrome: FGFR1 gene sequence analysis.

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

FGFR1
Specificity
100 %
Genes
12 %
KALLMANN SYNDROME AND RELATED DISORDERS.

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

HS6ST1, KISS1, TAC3, WDR11, NSMF, SEMA3A, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
7 %
Genes
12 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
3 %
Genes
23 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
12 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
3 %
Genes
23 %
Kallmann Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

KISS1, TAC3, NSMF, SEMA3A, ANOS1, FGF8, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
8 %
Genes
12 %
FGFR1.

By Fulgent Genetics Fulgent Genetics in United States.

FGFR1
Specificity
100 %
Genes
12 %
Holoprosencephaly Panel.

By Blueprint Genetics in Finland.

GLI3, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
9 %
Genes
12 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
12 %
Kallmann Syndrome Panel.

By Blueprint Genetics in Finland.

ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, CHD7
Specificity
12 %
Genes
12 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

MKRN3, AMHR2, AMH, MAMLD1, IRF6, FRAS1, RSPO1, MAP3K1, ZFPM2, DHH, IL17RD, DYNC2H1, CYP19A1, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, POR , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
12 %
KALLMANN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ANOS1, FGF8, PROK2, PROKR2, FGFR1, CHD7
Specificity
17 %
Genes
12 %
KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM).

By Laboratorio de Genetica Clinica SL in Spain.

ANOS1, FGF8, PROKR2, FGFR1, CHD7
Specificity
20 %
Genes
12 %
Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

HS6ST1, POLR3B, KISS1, TAC3, WDR11, FSHB, LHB, NSMF, SEMA3A, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
5 %
Genes
12 %
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

EFNB1, GLI3, TWIST1, MSX2, POR, RAB23, FGFR1, FGFR2, FGFR3
Specificity
12 %
Genes
12 %
Kallmann syndrome.

By Labor Dr. Wisplinghoff in Germany.

ANOS1, PROK2, PROKR2, FGFR1
Specificity
25 %
Genes
12 %
Kallmann syndrome 2.

By Labor Dr. Wisplinghoff in Germany.

FGFR1
Specificity
100 %
Genes
12 %
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

IL17RD, SOX10, ANOS1, PROKR2, GNRHR, TACR3, FGFR1, CHD7
Specificity
13 %
Genes
12 %
PTPN11 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTPN11
Specificity
100 %
Genes
12 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
12 %
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
12 %
Non-immune Hydrops Panel.

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

PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
12 %
Comprehensive Cardiac Panel.

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

DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
12 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

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

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
12 %
LEOPARD syndrome 1.

By Center for Human Genetics, Inc in United States.

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome 1 (PTPN11).

By Center for Human Genetics, Inc in United States.

PTPN11
Specificity
100 %
Genes
12 %
Juvenile Myelomonocytic Leukemia.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

SH2B3, JAK3, ASXL1, SETBP1, NF1, CBL, PTPN11, NRAS, KRAS
Specificity
12 %
Genes
12 %
Noonan Syndrome, PTPN11 Sequencing.

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

PTPN11
Specificity
100 %
Genes
12 %
Cardiomyopathy Panel.

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

TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
12 %
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
12 %
Noonan Spectrum Panel.

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

SPRED1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Noonan Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Noonan Spectrum Disorders Panel, Sequencing, 15 Genes.

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

SPRED1, RAB40AL, KAT6B, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
7 %
Genes
12 %
Noonan Spectrum Disorders Panel.

By GeneDx in United States.

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
10 %
Genes
12 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
12 %
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
12 %
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
12 %
HCMFirst reflex HCMNext.

By Ambry Genetics in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
12 %
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
12 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

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

CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
12 %
PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS.

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

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, RAF1
Specificity
10 %
Genes
12 %
PTPN11. Complete sequencing.

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

PTPN11
Specificity
100 %
Genes
12 %
PTPN11. Sequencing of the exons 7, 12 and 13.

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

PTPN11
Specificity
100 %
Genes
12 %
PTPN11-Related Noonan Syndrome.

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
12 %
PTPN11-Related LEOPARD syndrome.

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
12 %
Noonan Syndrome (sequence analysis of PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
12 %
Leopard syndrome (frequent mutations on PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome and rasopathies (NGS panel for 13 genes).

By CGC Genetics in Portugal.

SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication.

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

RASA2, SPRED1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
7 %
Genes
12 %
RASopathy Next Generation Sequencing and Deletion/Duplication.

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

SPRED1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
7 %
Genes
12 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
12 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
12 %
Noonan spectrum disorder NGS panel.

By Connective Tissue Gene Tests in United States.

PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
Noonan syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Noonan syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
12 %
Noonan Syndrome.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, CBL, SOS1, SHOC2, PTPN11, NRAS, KRAS, RAF1
Specificity
12 %
Genes
12 %
PTPN11-Related LEOPARD Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

PTPN11
Specificity
100 %
Genes
12 %
Congenital heart defects panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

GJC1, TBX20, CFC1, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, MYH11, FOXH1, NODAL, MYBPC3, LDB3, MYH7 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
12 %
Leukemia, juvenile myelomonocytic.

By Centogene AG - the Rare Disease Company in Germany.

PTPN11
Specificity
100 %
Genes
12 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

ADAM10, POFUT1, POGLUT1, ENPP1, HJV, HAMP, TFR2, EPG5, SLC40A1, KRT14, MLPH, RAB27A, MYO5A, KITLG, KIT, ADAR, LYST, MITF, SPRED1, SOX10 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
12 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
23 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
23 %
Single gene testing PTPN11.

By CeGaT GmbH in Germany.

PTPN11
Specificity
100 %
Genes
12 %
Noonan Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

SOS1, PTPN11, KRAS, RAF1
Specificity
25 %
Genes
12 %
PTPN11-Related Noonan Syndrome.

By GGA - Galil Genetic Analysis in Israel.

PTPN11
Specificity
100 %
Genes
12 %
PTPN11-Related Noonan Syndrome.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTPN11
Specificity
100 %
Genes
12 %
PTPN11-related Noonan Syndrome.

By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile in Chile.

PTPN11
Specificity
100 %
Genes
12 %
PTPN11-related Noonan Syndrome.

By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile in Chile.

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome, PTPN11 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

PTPN11
Specificity
100 %
Genes
12 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
12 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

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

View the complete list with 193 more genes
Specificity
1 %
Genes
12 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
12 %
Hypertrophic Cardiomyopathy Short Panel.

By Health in Code in Spain.

MYL3, MYL2, TNNT2, TPM1, PRKAG2, TNNI3, TNNC1, LAMP2, ACTA1, MYBPC3, FLNC, MYH7, DES, PTPN11, GLA, TTR
Specificity
7 %
Genes
12 %
Cardiomyopathies Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
12 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

FHOD3, TRIM63, KLF10, CALR3, CAVIN4, OBSL1, AGPAT2, FHL2, CTF1, VCL, MYL3, MYL2, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
12 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

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

View the complete list with 360 more genes
Specificity
1 %
Genes
12 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
Hypertrophic cardiomyopathy panel.

By Health in Code in Spain.

MYL3, MYL2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, FLNC, MYH7, DES, PTPN11, GLA, TTR
Specificity
6 %
Genes
12 %
Arrhythmia General Panel.

By Health in Code in Spain.

GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
12 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
12 %
Aortic diseases Panel.

By Health in Code in Spain.

GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
12 %
RASopathies Panel.

By Health in Code in Spain.

A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
6 %
Genes
12 %
Metachondromatosis.

By Praxis fuer Humangenetik Wien in Austria.

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD SYNDROME.

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

PTPN11, RAF1
Specificity
50 %
Genes
12 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
12 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

HAND1, MEIS2, NKX2-6, NR2F2, MED13L, SMAD6, ZFPM2, GATA6, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
12 %
Invitae Noonan Syndrome Panel.

By Invitae in United States.

A2ML1, RRAS, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Noonan Syndrome and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
12 %
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
12 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
12 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
12 %
Noonan Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
10 %
Genes
12 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
12 %
PTPN11.

By Fulgent Genetics Fulgent Genetics in United States.

PTPN11
Specificity
100 %
Genes
12 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
12 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 165 more genes
Specificity
1 %
Genes
12 %
Noonan Syndrome Panel.

By Insight Medical Genetics in United States.

CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
Leopard syndrome type 1.

By Bioarray in Spain.

PTPN11
Specificity
100 %
Genes
12 %
Hypertrophic Cardiomyopathy Gene Set.

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, LAMP2, MYBPC3, MYH7, MAP2K2, RIT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
12 %
Noonan Syndrome Panel.

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

CBL, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
12 %
Genes
12 %
PTPN11 Gene Sequencing and Deletion/Duplication Analysis.

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

PTPN11
Specificity
100 %
Genes
12 %
Wolff-Parkinson White Panel by NGS.

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
Cardiomyopathy, familial hypertrophic Panel by NGS.

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
PTPN11 Gene, entire coding region or targeted variant.

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

PTPN11
Specificity
100 %
Genes
12 %
LEUKEMIA, JUVENILE MYELOMONOCYTIC.

By Laboratorio de Genetica Clinica SL in Spain.

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
12 %
Noonan Syndrome Type 1 , Sequencing PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD Syndrome, Sequencing PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD Syndrome, Sequencing Exons (7,12,13) PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
12 %
Noonan Syndrome Type 1 , Sequencing Exons (3,7,8,13) PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
12 %
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes.

By Reference Laboratory Genetics in Spain.

CALR3, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, RYR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
Noonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

SPRED1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
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
12 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
12 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
12 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
12 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, MYBPC3 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
12 %
PTPN11 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

PTPN11
Specificity
100 %
Genes
12 %
PTPN11 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PTPN11
Specificity
100 %
Genes
12 %
Noonan Syndrome (PTPN11) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PTPN11
Specificity
100 %
Genes
12 %
NGS RASopathy Panel.

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

A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, KAT6B, LZTR1, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
12 %
Noonan syndrome.

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

PTPN11
Specificity
100 %
Genes
12 %
Hypertrophic Cardiomyopathy Panel.

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, PDLIM3, PKP2, LAMP2, MYBPC3, MYH7, TTN , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
12 %
Noonan Syndrome 11-Gene Sequencing Panel.

By Center for Human Genetics, Inc in United States.

LZTR1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, KRAS, BRAF, RAF1
Specificity
10 %
Genes
12 %
Rasopathy NextGen Panel.

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

PPP1CB, A2ML1, RRAS, RASA2, SPRED1, LZTR1, ACTG1, ACTB, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
12 %
Noonan Syndrome Panel.

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

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
Hypertrophic Cardiomyopathy Panel.

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

OBSCN, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
12 %
PTPN11-Related Noonan syndrome.

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

PTPN11
Specificity
100 %
Genes
12 %
Prenatal Noonan Spectrum Panel.

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

MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
10 %
Genes
12 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
12 %
Noonan Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
12 %
HCM Panel (20 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, PTPN11, GLA, RAF1, TTR
Specificity
5 %
Genes
12 %
Pan Cardiomyopathy Panel (62 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
12 %
Expanded RASopathy Panel (14 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

SPRED1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing.

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

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome/RASopathy Disorders Panel.

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

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
10 %
Genes
12 %
CardioNext with TTN.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
12 %
CMNext with TTN.

By Ambry Genetics in United States.

TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
12 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
12 %
Noonan Syndrome Panel.

By Ambry Genetics in United States.

SOS1, PTPN11, KRAS, RAF1
Specificity
25 %
Genes
12 %
HCMNext.

By Ambry Genetics in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
12 %
PTPN11. Complete sequencing.

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

PTPN11
Specificity
100 %
Genes
12 %
PTPN11. Sequencing of the exons 2, 3, 8, 9 and 13.

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

PTPN11
Specificity
100 %
Genes
12 %
PTPN11, RAF1, SOS1, KRAS, BRAF. NextGeneDx.Complete sequencing by NGS.

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

SOS1, PTPN11, KRAS, RAF1
Specificity
25 %
Genes
12 %
PTPN11-Related Noonan Syndrome.

By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine. in Spain.

PTPN11
Specificity
100 %
Genes
12 %
Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2, and SPRED1 Next Generation Sequence Analysis.

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

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
Noonan Syndrome and LEOPARD Syndrome - PTPN11 Sequence Analysis.

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

PTPN11
Specificity
100 %
Genes
12 %
Noonan Syndrome Seq Analysis.

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

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
PTPN11-Related Noonan syndrome.

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

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SOS1, PTPN11, NRAS, KRAS, RAF1
Specificity
20 %
Genes
12 %
LEOPARD syndrome (sequence analysis of PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD syndrome (sequence analysis of PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
12 %
Peripheral Nerve Sheath Tumor NGS panel.

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

SMARCB1, LZTR1, NF1, NF2, PTPN11, KRAS
Specificity
17 %
Genes
12 %
Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAP3K8, SPRY1, A2ML1, RRAS, RASA2, KAT6B, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
12 %
PTPN11-Related Disorders via PTPN11 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PTPN11
Specificity
100 %
Genes
12 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, RYR2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
12 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
12 %
Noonan spectrum disorder Comprehensive panel.

By Connective Tissue Gene Tests in United States.

PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
Noonan spectrum disorder Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
Noonan syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Noonan syndrome.

By Institute of Human Genetics Cologne University in Germany.

RIT1, PTPN11
Specificity
50 %
Genes
12 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

AGPAT2, MYL3, MYL2, CSRP3, TNNT2, TPM1, PLN, PRKAG2, TNNI3, ACTC1, LAMP2, LZTR1, ACTA1, MYBPC3, FHL1, BSCL2, MYH7, DES, TTN, NF1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
12 %
Noonan syndrome - different panels.

By Institute of Human Genetics Cologne University in Germany.

A2ML1, RRAS, RASA2, LZTR1, RIT1, SOS2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
RASopathies.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
7 %
Genes
12 %
Noonan Syndrome Sequential Panel.

By FirmaLab in United States.

SOS1, PTPN11, KRAS, RAF1
Specificity
25 %
Genes
12 %
PTPN11-Related Noonan Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD syndrome.

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

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome.

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

SOS1, PTPN11
Specificity
50 %
Genes
12 %
Noonan syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD syndrome.

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

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
12 %
Noonan syndrome.

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

SOS1, PTPN11, KRAS, BRAF, RAF1
Specificity
20 %
Genes
12 %
RASopathies Panel.

By CeGaT GmbH in Germany.

CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
23 %
Noonan Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
15 %
Genes
12 %
PTPN11-Related LEOPARD Syndrome.

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

PTPN11
Specificity
100 %
Genes
12 %
Noonan Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

SPRED1, KAT6B, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
8 %
Genes
12 %
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
12 %
PTPN11 gene sequencing.

By Health in Code in Spain.

PTPN11
Specificity
100 %
Genes
12 %
Hypertrophic cardiomyopathy with suspected Noonan Syndrome.

By Health in Code in Spain.

PTPN11, KRAS
Specificity
50 %
Genes
12 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
12 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
12 %
Rasopathies NGS Panel.

By Health in Code in Spain.

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
9 %
Genes
12 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
12 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
12 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
12 %
PTPN11-Related Noonan Syndrome.

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

PTPN11
Specificity
100 %
Genes
12 %
Primary lymphedema and Hydrops fetalis.

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

EPHB4, ITGA9, GJA1, FLT4, PTPN14, KIF11, VEGFC, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, HGF, GATA2, SOS1, PTPN11, NRAS, KRAS, IKBKG , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
12 %
LEOPARD syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

PTPN11
Specificity
100 %
Genes
12 %
RASOPATHY-RELATED SYNDROME.

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

A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
6 %
Genes
12 %
NOONAN SYNDROME.

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

A2ML1, RRAS, RASA2, LZTR1, NF1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
7 %
Genes
12 %
LEOPARD syndrome 1.

By MedGene in Slovakia.

PTPN11
Specificity
100 %
Genes
12 %
Metachondromatosis.

By MedGene in Slovakia.

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome 1.

By MedGene in Slovakia.

PTPN11
Specificity
100 %
Genes
12 %
Invitae Noonan Syndrome with Multiple Lentigines Panel.

By Invitae in United States.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
12 %
Invitae RASopathies Comprehensive Panel.

By Invitae in United States.

A2ML1, RRAS, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
6 %
Genes
12 %
LEOPARD syndrome: PTPN11 gene sequence analysis.

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

PTPN11
Specificity
100 %
Genes
12 %
LEOPARD syndrome: PTPN11 gene sequence analysis (exons 7, 12, 13).

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

PTPN11
Specificity
100 %
Genes
12 %
Noonan syndrome: PTPN11 gene sequence analysis.

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

PTPN11
Specificity
100 %
Genes
12 %
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
23 %
Noonan Syndrome: PTPN11 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTPN11
Specificity
100 %
Genes
12 %
Noonan Syndrome: PTPN11 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTPN11
Specificity
100 %
Genes
12 %
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
12 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
12 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
12 %
Noonan Syndrome and Related Conditions Profile.

By Integrated Genetics Westborough Integrated Genetics in United States.

MAP2K2, SOS1, SHOC2, PTPN11, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
12 %
Genes
12 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
12 %
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
12 %
Short Stature NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EP300, FGD1, NIPBL, SMC1A, SOS1, PTPN11, KRAS, DHCR7, CREBBP, RAF1
Specificity
10 %
Genes
12 %
Hypertrophic Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
12 %
Neurofibromatosis Panel.

By Blueprint Genetics in Finland.

KITLG, KIT, SMARCB1, SPRED1, NF1, NF2, PTPN11, RAF1
Specificity
13 %
Genes
12 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 135 more genes
Specificity
1 %
Genes
12 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
12 %
Noonan Syndrome Panel.

By Blueprint Genetics in Finland.

PPP1CB, RRAS, RASA2, NSUN2, SPRED1, LZTR1, ACTG1, ACTB, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
12 %
Exostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

EXT1, EXT2, PTPN11
Specificity
34 %
Genes
12 %
Noonan syndrome type 1.

By Bioarray in Spain.

PTPN11
Specificity
100 %
Genes
12 %
CardioGene Set.

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

TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
12 %
Cardiomyopathy Gene Set.

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

TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
12 %
Noonan Syndrome and related disorders (RASopathies) Panel.

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

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
10 %
Genes
12 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
12 %
Noonan Syndrome Panel by NGS.

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

PTPN11, RAF1
Specificity
50 %
Genes
12 %
NOONAN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
15 %
Genes
12 %
Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

NF1, CBL, PTPN11, NRAS, KRAS
Specificity
20 %
Genes
12 %
LEOPARD Syndrome, Panel Massive Sequencing (NGS) PTPN11, RAF1, BRAF Genes.

By Reference Laboratory Genetics in Spain.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
12 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
12 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
12 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, FHL1, BAG3, LDB3, FLNC , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
12 %
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
12 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

AKT1, AKT3, PIK3R2, GNA11, GNAQ, AKT2, PIK3CA, MTOR
Specificity
13 %
Genes
12 %
PIK3CA.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PIK3CA
Specificity
100 %
Genes
12 %
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
12 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics in Portugal.

NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5
Specificity
13 %
Genes
12 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

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

View the complete list with 391 more genes
Specificity
1 %
Genes
12 %
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
12 %
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
12 %
CLOVE syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PIK3CA
Specificity
100 %
Genes
12 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
12 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
12 %
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
12 %
PIK3CA-Related Segmental Overgrowth (Cowden Syndrome 5): PIK3CA gene sequence analysis.

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

PIK3CA
Specificity
100 %
Genes
12 %
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
12 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
12 %
Lymphatic Malformations and Related Disorders Panel.

By Blueprint Genetics in Finland.

PIK3CA, FLT4, KIF11, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, GATA2, GJC2
Specificity
10 %
Genes
12 %
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
12 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
Circulo Lung.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
Circulo Gastric.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
Cowden Syndrome, Sequencing PIK3CA Gene.

By Reference Laboratory Genetics in Spain.

PIK3CA
Specificity
100 %
Genes
12 %
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome , Sequencing PIK3CA Gene.

By Reference Laboratory Genetics in Spain.

PIK3CA
Specificity
100 %
Genes
12 %
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
12 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
12 %
PIK3CA sequence analysis (Somatic).

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

PIK3CA
Specificity
100 %
Genes
12 %
PIK3CA Sequencing.

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

PIK3CA
Specificity
100 %
Genes
12 %
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
12 %
PIK3CA. Complete sequencing.

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

PIK3CA
Specificity
100 %
Genes
12 %
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
12 %
Cowden syndrome type 5 (sequence analysis of PIK3CA gene).

By CGC Genetics in Portugal.

PIK3CA
Specificity
100 %
Genes
12 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics in Portugal.

NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5
Specificity
13 %
Genes
12 %
Cowden syndrome type 5 (sequence analysis of PIK3CA gene).

By CGC Genetics in Portugal.

PIK3CA
Specificity
100 %
Genes
12 %
Cowden and Cowden-like Syndromes via the PIK3CA Gene.

By PreventionGenetics PreventionGenetics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
Colorectal adenocarcinoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

PIK3CA, NRAS, KRAS, BRAF
Specificity
25 %
Genes
12 %
Megalencephaly.

By MGZ Medical Genetics Center in Germany.

CCND2, AKT1, AKT3, PIK3R2, PIK3CA, TSC1, TSC2, PTEN
Specificity
13 %
Genes
12 %
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
12 %
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
12 %
CLOVE syndrome, somatic (PIK3CA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PIK3CA
Specificity
100 %
Genes
12 %
PIK3CA.

By Fulgent Genetics Fulgent Genetics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
PIK3CA Mutation by Sequencing.

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

PIK3CA
Specificity
100 %
Genes
12 %
PIK3CA-Related Overgrowth Gene Set.

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

PIK3CA
Specificity
100 %
Genes
12 %
Nevus Gene Set.

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

GNA11, GNAQ, PIK3CA, NRAS, KRAS, HRAS, FGFR3
Specificity
15 %
Genes
12 %
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
12 %
PIK3CA Gene Sequencing and Deletion/Duplication Analysis.

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

PIK3CA
Specificity
100 %
Genes
12 %
Circulo Breast.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
Circulo Ovarian.

By Circulogene Theranostics in United States.

PIK3CA
Specificity
100 %
Genes
12 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

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

GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, MME, PRPS1, IGHMBP2, DYNC1H1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
12 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 460 more genes
Specificity
1 %
Genes
12 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

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

HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
12 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
7 %
Genes
12 %
Charcot-Marie-Tooth disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...)

View the complete list with 23 more genes
Specificity
3 %