Juvenile Myelomonocytic Leukemia; Jmml

Description

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

Clinical Features

Top most frequent phenotypes and symptoms related to Juvenile Myelomonocytic Leukemia; Jmml

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly
  • Narrow mouth
  • Leukemia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Neurofibromas
And another 8 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Juvenile Myelomonocytic Leukemia; Jmml have a estimated prevalence of 0.1 per 100k worldwide.


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Juvenile Myelomonocytic Leukemia; Jmml Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurofibromatosis Type 1 Deletion Test.

By Athena Diagnostics Inc in United States.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Syndrome Type 1.

By Center for Human Genetics, Inc in United States.

NF1
Specificity
100 %
Genes
5 %
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
100 %
Genes
45 %
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
5 %
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
6 %
Genes
5 %
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
5 %
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
36 %
Genes
25 %
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
10 %
Genes
25 %
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
39 %
Genes
25 %
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
7 %
Genes
25 %
PulmoGene Panel (64 Genes).

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

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
5 %
Legius Syndrome (SPRED1) Sequencing.

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

SPRED1, NF1
Specificity
50 %
Genes
5 %
Neurofibromatosis Type 1 (NF1) Deletion/Duplication.

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

NF1
Specificity
100 %
Genes
5 %
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
5 %
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
6 %
Genes
25 %
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
6 %
Genes
5 %
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
5 %
BrainTumorNext.

By Ambry Genetics in United States.

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

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
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
5 %
CustomNext: Cancer.

By Ambry Genetics in United States.

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

View the complete list with 48 more genes
Specificity
2 %
Genes
5 %
NF1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

NF1
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
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
9 %
Genes
15 %
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
5 %
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
12 %
Genes
15 %
NF1. NextGeneDx.Complete sequencing by NGS.

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

NF1
Specificity
100 %
Genes
5 %
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
5 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

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

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
5 %
Neurofibromatosis-Noonan syndrome (sequence analysis of NF1 gene).

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis type 1 (sequence analysis of NF1 gene).

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis type I (deletion/duplication analysis on NF1 gene).

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
5 %
Psychomotor development delay (various syndromes, deletion/duplication analysis).

By CGC Genetics in Portugal.

NF1, MECP2
Specificity
50 %
Genes
5 %
Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes).

By CGC Genetics in Portugal.

SMARCB1, NF1, NF2
Specificity
34 %
Genes
5 %
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
39 %
Genes
25 %
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
5 %
Neurofibromatosis Type 1 (NF1) RNA.

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

NF1
Specificity
100 %
Genes
5 %
NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication.

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

SPRED1, NF1
Specificity
50 %
Genes
5 %
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
34 %
Genes
25 %
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene.

By PreventionGenetics PreventionGenetics in United States.

NF1
Specificity
100 %
Genes
5 %
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
5 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 202 more genes
Specificity
2 %
Genes
15 %
Neurofibromatosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
5 %
Neurofibromatosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
5 %
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
24 %
Genes
30 %
Neurofibromatosis type I Comprehensive test.

By Connective Tissue Gene Tests in United States.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis type I NGS test.

By Connective Tissue Gene Tests in United States.

NF1
Specificity
100 %
Genes
5 %
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
2 %
Genes
50 %
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
10 %
Gastrointestinal Stromal Tumor – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

KIT, NF1, PRKAR1A, SDHD, SDHB, SDHC
Specificity
17 %
Genes
5 %
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
4 %
Genes
30 %
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
3 %
Genes
45 %
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
3 %
Genes
45 %
Gastrointestinal Stromal Tumor.

By MGZ Medical Genetics Center in Germany.

KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2
Specificity
10 %
Genes
5 %
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
5 %
Neurofibromatosis 1.

By Bioscientia GmbH Center for Human Genetics in Germany.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis 1.

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

NF1
Specificity
100 %
Genes
5 %
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
7 %
Genes
30 %
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
35 %
Neurofibromatosis type I.

By Centogene AG - the Rare Disease Company in Germany.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis, Type 1.

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

NF1
Specificity
100 %
Genes
5 %
Pheochromocytoma and Paraganglioma Panel.

By CeGaT GmbH in Germany.

CDKN1B, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
8 %
Genes
5 %
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
7 %
Genes
10 %
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
27 %
Genes
30 %
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
27 %
Genes
30 %
Neurofibromatosis type I (von Recklinghausen`s Disease).

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

NF1
Specificity
100 %
Genes
5 %
NF1.

By Innovagenomics Innovagenomics S.L in Spain.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis 1 (NF1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NF1
Specificity
100 %
Genes
5 %
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
2 %
Genes
30 %
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
3 %
Genes
25 %
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
7 %
Genes
25 %
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
28 %
Genes
25 %
Neurofibromatosis I.

By Praxis fuer Humangenetik Wien in Austria.

NF1
Specificity
100 %
Genes
5 %
Watson syndrome.

By Praxis fuer Humangenetik Wien in Austria.

NF1
Specificity
100 %
Genes
5 %
LEGIUS SYNDROME - SPRED1 gene.

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

SPRED1, NF1
Specificity
50 %
Genes
5 %
NEUROFIBROMATOSIS TYPE 1 - NF1 gene.

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

SPRED1, NF1
Specificity
50 %
Genes
5 %
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
15 %
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
5 %
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
5 %
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
5 %
Watson syndrome.

By MedGene in Slovakia.

NF1
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
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
5 %
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
7 %
Genes
25 %
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
4 %
Genes
15 %
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
5 %
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
5 %
Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel.

By Invitae in United States.

PDGFRA, KIT, NF1, SDHD, SDHA, SDHB, SDHC
Specificity
15 %
Genes
5 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

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

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
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
19 %
Genes
15 %
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
19 %
Genes
15 %
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
5 %
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
5 %
Invitae Overgrowth and Macrocephaly Syndromes Panel.

By Invitae in United States.

NPR2, DIS3L2, KPTN, AKT3, PIK3R2, AKT2, GLI3, EZH2, NFIX, DNMT3A, SPRED1, MED12, CUL4B, PHF6, SETD2, NF1, GPC3, CDKN1C, NSD1, PTEN
Specificity
15 %
Genes
15 %
Neurofibromatosis type I: NF1 gene deletions-duplications analysis (MLPA).

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

NF1
Specificity
100 %
Genes
5 %
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
7 %
Genes
10 %
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
2 %
Genes
30 %
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
15 %
Paraganglioma-Pheochromocytomas NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EGLN1, NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
9 %
Genes
5 %
Neurofibromatosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SPRED1, NF1, NF2
Specificity
34 %
Genes
5 %
NF1.

By Fulgent Genetics Fulgent Genetics in United States.

NF1
Specificity
100 %
Genes
5 %
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
5 %
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
2 %
Genes
30 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
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
5 %
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
5 %
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
5 %
Paraganglioma-Pheochromocytoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
5 %
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
5 %
NF1 Sequencing and Deletion/Duplication.

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

NF1
Specificity
100 %
Genes
5 %
N-FIBRON.

By PentaCoreLab in Hungary.

NF1, NF2
Specificity
50 %
Genes
5 %
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
18 %
Genes
35 %
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
7 %
Genes
45 %
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
5 %
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
4 %
Genes
40 %
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
7 %
Genes
40 %
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
4 %
Genes
30 %
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
5 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SLC34A2, ITGA3, SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, CSF2RA, PARN, TERT, ELMOD2, TERC, DKC1, NF1, RTEL1, SLC7A7, TSC1, TSC2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
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
5 %
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
5 %
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
20 %
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
3 %
Genes
40 %
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
3 %
Genes
15 %
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
10 %
Genes
20 %
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
15 %
NF1 Gene Sequencing and Deletion/Duplication Analysis.

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

NF1
Specificity
100 %
Genes
5 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
5 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
5 %
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
5 %
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
4 %
Genes
70 %
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
4 %
Genes
56 %
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
3 %
Genes
80 %
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
7 %
Genes
45 %
Neurofibromatosis Type 1 , Sequencing NF1 Gene.

By Reference Laboratory Genetics in Spain.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Type 1 , Deletions-Duplications (MLPA) NF1 Gene.

By Reference Laboratory Genetics in Spain.

NF1
Specificity
100 %
Genes
5 %
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
5 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
5 %
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
5 %
Neurofibromatosis, type 1.

By Labor Dr. Wisplinghoff in Germany.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis-Noonan syndrome.

By Labor Dr. Wisplinghoff in Germany.

NF1
Specificity
100 %
Genes
5 %
Neurofibrometatosis type 1: NF1 gene sequencing for known mutation.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

NF1
Specificity
100 %
Genes
5 %
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
9 %
Genes
30 %
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
7 %
Genes
30 %
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
9 %
Genes
15 %
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
14 %
Genes
30 %
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
35 %
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
3 %
Genes
75 %
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
85 %
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
15 %
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
5 %
Genes
10 %
Neurofibromatosis 1: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis 1: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Type 1 (NF1) Evaluation.

By Athena Diagnostics Inc in United States.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Type 1 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

NF1
Specificity
100 %
Genes
5 %
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
27 %
Genes
30 %
Neurofibromatosis-Noonan syndrome.

By Center for Human Genetics, Inc in United States.

NF1
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
Neurofibromatosis1.

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

NF1
Specificity
100 %
Genes
5 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
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
24 %
Genes
15 %
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
17 %
Genes
25 %
Hereditary Pheochromocytoma and Paraganglioma Panel.

By Genetic Services Laboratory University of Chicago in United States.

EGLN1, EPAS1, NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
8 %
Genes
5 %
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
42 %
Genes
25 %
NF1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NF1
Specificity
100 %
Genes
5 %
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
36 %
Genes
25 %
NEUROFIBROMATOSIS, TYPE I; NF1.

By Human Genetics Ruhr University in Germany.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication.

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

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Type 1 (NF1) Sequencing.

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

NF1
Specificity
100 %
Genes
5 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel.

By GeneDx in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
5 %
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
5 %
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
5 %
PGLNext.

By Ambry Genetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
5 %
NF1. Complete sequencing of the mRNA.

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

NF1
Specificity
100 %
Genes
5 %
NF1. MLPA testing.

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

NF1
Specificity
100 %
Genes
5 %
NF1. Complete sequencing.

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

NF1
Specificity
100 %
Genes
5 %
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
5 %
Genes
25 %
Neurofibromatosis 1.

By CGC Genetics in Portugal.

NF1
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
Genes
20 %
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
5 %
Neurofibromatosis 1.

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

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Type 1 (NF1) Next Generation Sequencing and Deletion/Duplication Analysis.

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

NF1
Specificity
100 %
Genes
5 %
Peripheral Nerve Sheath Tumor NGS panel.

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

SMARCB1, LZTR1, NF1, NF2, PTPN11, KRAS
Specificity
50 %
Genes
15 %
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
5 %
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
29 %
Genes
30 %
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
5 %
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPRED1, NF1
Specificity
50 %
Genes
5 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
5 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A2, ITGA3, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, PARN, TERT, TERC, DKC1, NF1, RTEL1, SLC7A7, FLCN, TSC1, TSC2, TINF2, CFTR , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
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
5 %
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
24 %
Genes
30 %
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
24 %
Genes
30 %
Neurofibromatosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SPRED1, NF1, NF2, MLH1, MSH6, MSH2
Specificity
17 %
Genes
5 %
Neurofibromatosis type I Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NF1
Specificity
100 %
Genes
5 %
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
8 %
Genes
25 %
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
7 %
Genes
15 %
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
4 %
Genes
20 %
RASopathies.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
40 %
Genes
30 %
Pheochromozytoma-Paraganglioma syndrome.

By MGZ Medical Genetics Center in Germany.

NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
5 %
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
10 %
Genes
30 %
Neurofibromatosis type I.

By Centogene AG - the Rare Disease Company in Germany.

NF1
Specificity
100 %
Genes
5 %
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
5 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
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
5 %
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
27 %
Genes
30 %
Single gene testing NF1.

By CeGaT GmbH in Germany.

NF1
Specificity
100 %
Genes
5 %
Test for Neurofibromatosis 1.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

NF1
Specificity
100 %
Genes
5 %
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
4 %
Genes
15 %
Neurofibromatosis 1, NF1 sequencing.

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

NF1
Specificity
100 %
Genes
5 %
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
4 %
Genes
20 %
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
3 %
Genes
25 %
Neurocutaneous Panel.

By Molecular Vision Laboratory in United States.

KIT, SPRED1, NF1, NF2, TSC1, TSC2, VHL
Specificity
15 %
Genes
5 %
Neurofibromatosis panel.

By Molecular Vision Laboratory in United States.

KIT, SPRED1, NF1
Specificity
34 %
Genes
5 %
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
32 %
Genes
30 %
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
38 %
Genes
30 %
Neurofibromatosis I.

By MedGene in Slovakia.

NF1
Specificity
100 %
Genes
5 %
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
5 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel.

By Invitae in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
5 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

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

View the complete list with 28 more genes
Specificity
3 %
Genes
5 %
Invitae Neurofibromatosis Type 1 Test.

By Invitae in United States.

NF1
Specificity
100 %
Genes
5 %
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
34 %
Genes
30 %
Neurofibromatosis type I: NF1 gene sequence analysis.

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

NF1
Specificity
100 %
Genes
5 %
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
14 %
Genes
30 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA.

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

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
5 %
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
2 %
Genes
10 %
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
19 %
Genes
15 %
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
5 %
Genes
25 %
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
5 %
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
19 %
Genes
56 %
Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication.

By Institut fuer Laboratoriumsmedizin Berlin Institut für Laboratoriumsmedizin Berlin (IFLb) in Germany.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Panel.

By Blueprint Genetics in Finland.

KITLG, KIT, SMARCB1, SPRED1, NF1, NF2, PTPN11, RAF1
Specificity
25 %
Genes
10 %
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
4 %
Genes
30 %
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
13 %
Genes
45 %
Hereditary Paraganglioma-Pheochromocytoma Panel.

By Blueprint Genetics in Finland.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
5 %
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
4 %
Genes
10 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
5 %
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
28 %
Genes
30 %
Neurofibromatosis type I.

By Bioarray in Spain.

NF1
Specificity
100 %
Genes
5 %
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
25 %
Genes
65 %
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
7 %
Genes
15 %
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
8 %
Genes
15 %
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
10 %
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
8 %
Genes
20 %
Neurofibromatosis NGS and Deletion/Duplication Panel.

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

SPRED1, NF1, NF2
Specificity
34 %
Genes
5 %
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
30 %
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
5 %
NEUROFIBROMATOSIS TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

NF1
Specificity
100 %
Genes
5 %
Neurofibromatosis Type 1 , Sequencing RNAm NF1 Gene.

By Reference Laboratory Genetics in Spain.

NF1
Specificity
100 %
Genes
5 %
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
5 %
Genes
20 %
Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

NF1, CBL, PTPN11, NRAS, KRAS
Specificity
100 %
Genes
25 %
Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1,NF2,SPRED1 Genes.

By Reference Laboratory Genetics in Spain.

SPRED1, NF1, NF2
Specificity
34 %
Genes
5 %
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
7 %
Genes
30 %
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
8 %
Genes
30 %
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
5 %
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
17 %
Genes
15 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 15 more genes
Specificity
3 %
Genes
5 %
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
5 %
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
5 %
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
4 %
Genes
15 %
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
8 %
Genes
20 %
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
13 %
Genes
30 %
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
10 %
Genes
15 %
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
22 %
Genes
25 %
Syndromic Hirschsprung Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
Neurofibromatosis I.

By Genomic Laboratory Semmelweis University in Hungary.

NF1
Specificity
100 %
Genes
5 %
NRAS Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

NRAS
Specificity
100 %
Genes
5 %
NRAS Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

NRAS
Specificity
100 %
Genes
5 %
NRAS Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

NRAS
Specificity
100 %
Genes
5 %
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
14 %
Genes
20 %
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
5 %
Genes
20 %
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
4 %
Genes
20 %
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
4 %
Genes
20 %
NRAS Mutation Analysis.

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

NRAS
Specificity
100 %
Genes
5 %
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS).

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

FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
23 %
Genes
10 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.

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

FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
23 %
Genes
10 %
NRAS Sequencing.

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

NRAS
Specificity
100 %
Genes
5 %
NRAS Deletion/duplication analysis.

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

NRAS
Specificity
100 %
Genes
5 %
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
27 %
Genes
20 %
Noonan Spectrum Disorders Panel.

By GeneDx in United States.

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
37 %
Genes
20 %
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
4 %
Genes
15 %
Lynch Syndrome Paired Testing.

By Ambry Genetics in United States.

NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
25 %
Genes
10 %
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
14 %
Genes
25 %
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
37 %
Genes
20 %
Noonan Syndrome - NRAS Sequence Analysis.

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

NRAS
Specificity
100 %
Genes
5 %
NRAS gene (sequence analysis).

By CGC Genetics in Portugal.

NRAS
Specificity
100 %
Genes
5 %
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
27 %
Genes
20 %
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
3 %
Genes
20 %
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
10 %
Genes
20 %
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
29 %
Genes
20 %
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
29 %
Genes
20 %
Noonan Syndrome.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, CBL, SOS1, SHOC2, PTPN11, NRAS, KRAS, RAF1
Specificity
56 %
Genes
25 %
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
12 %
Genes
20 %
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ITCH, IL2RA, FADD, LRBA, CASP10, FASLG, FAS, FOXP3, NRAS, KRAS, AIRE, CASP8
Specificity
17 %
Genes
10 %
Epidermal nevus, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Noonan syndrome type 6.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Melanocytic nevus syndrome, congenital, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Thyroid carcinoma, follicular, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
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
25 %
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
25 %
NRAS.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NRAS
Specificity
100 %
Genes
5 %
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
2 %
Genes
20 %
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
3 %
Genes
20 %
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
4 %
Genes
15 %
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
38 %
Genes
56 %
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
10 %
Genes
20 %
Invitae Noonan Syndrome Panel.

By Invitae in United States.

A2ML1, RRAS, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
36 %
Genes
25 %
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
34 %
Genes
20 %
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
16 %
Genes
10 %
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
5 %
Genes
15 %
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
3 %
Genes
15 %
Noonan Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
37 %
Genes
20 %
Thyroid Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SDHD, NRAS, KRAS, HRAS, BRAF, SDHB, RET, TP53, PTEN, MUTYH
Specificity
20 %
Genes
10 %
NRAS.

By Fulgent Genetics Fulgent Genetics in United States.

NRAS
Specificity
100 %
Genes
5 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 255 more genes
Specificity
2 %
Genes
25 %
Noonan Syndrome Panel.

By Insight Medical Genetics in United States.

CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
34 %
Genes
20 %
NRAS Mutation by Sequencing.

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

NRAS
Specificity
100 %
Genes
5 %
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
23 %
Genes
60 %
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
38 %
Genes
50 %
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
9 %
Genes
15 %
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
8 %
Genes
10 %
Noonan syndrome type 6.

By Bioarray in Spain.

NRAS
Specificity
100 %
Genes
5 %
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
10 %
Genes
15 %
Severe Congenital Neutropenia Gene Set.

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

CXCR2, JAGN1, CXCR4, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, VPS13B, WAS, SBDS, GATA2, NRAS, KRAS, TCIRG1, TAZ , (...)

View the complete list with 4 more genes
Specificity
17 %
Genes
20 %
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
45 %
Genes
20 %
NRAS Gene Sequencing and Deletion/Duplication Analysis.

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

NRAS
Specificity
100 %
Genes
5 %
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
25 %
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
25 %
Genes
15 %
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
5 %
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
5 %
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
9 %
Genes
20 %
Noonan syndrome 6 (NRAS).

By Center for Human Genetics, Inc in United States.

NRAS
Specificity
100 %
Genes
5 %
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
37 %
Genes
20 %
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
24 %
Genes
25 %
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
34 %
Genes
20 %
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
23 %
Genes
60 %
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
21 %
Genes
56 %
NRAS-Related Noonan syndrome.

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

NRAS
Specificity
100 %
Genes
5 %
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
30 %
Genes
15 %
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
37 %
Genes
20 %
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
10 %
Genes
10 %
TumorNext-Lynch.

By Ambry Genetics in United States.

NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
25 %
Genes
10 %
NRAS. Complete sequencing.

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

NRAS
Specificity
100 %
Genes
5 %
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
34 %
Genes
20 %
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
34 %
Genes
20 %
NRAS-related Noonan Syndrome.

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

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

By CGC Genetics in Portugal.

SOS1, PTPN11, NRAS, KRAS, RAF1
Specificity
60 %
Genes
15 %
Noonan Syndrome via the NRAS Gene.

By PreventionGenetics PreventionGenetics in United States.

NRAS
Specificity
100 %
Genes
5 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
5 %
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
4 %
Genes
15 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRKCD, CTLA4, FADD, LRBA, PIK3CD, ITK, CASP10, FASLG, XIAP, FAS, SH2D1A, MAGT1, NRAS, KRAS, STAT3, CASP8
Specificity
13 %
Genes
10 %
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
29 %
Genes
20 %
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
31 %
Genes
20 %
Colorectal adenocarcinoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

PIK3CA, NRAS, KRAS, BRAF
Specificity
50 %
Genes
10 %
Melanoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

GNA11, GNAQ, KIT, NRAS, BRAF
Specificity
20 %
Genes
5 %
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
23 %
Genes
60 %
Autoimmune lymphoproliferative syndrome type 4.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Epidermal nevus, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Neurocutaneous melanosis, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Colorectal cancer, hereditary.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome.

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

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
43 %
Genes
15 %
NRAS.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

SPRED1, KAT6B, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
31 %
Genes
20 %
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
3 %
Genes
15 %
Rasopathies NGS Panel.

By Health in Code in Spain.

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
34 %
Genes
20 %
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
11 %
Genes
20 %
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
18 %
Genes
20 %
NRAS Exons 2 and 3 Mutation Analysis.

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

NRAS
Specificity
100 %
Genes
5 %
Noonan syndrome 6.

By Praxis fuer Humangenetik Wien in Austria.

NRAS
Specificity
100 %
Genes
5 %
Noonan syndrome 6.

By MedGene in Slovakia.

NRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome: NRAS Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome: NRAS Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NRAS
Specificity
100 %
Genes
5 %
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
3 %
Genes
15 %
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
5 %
Genes
15 %
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
5 %
Genes
15 %
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
7 %
Genes
25 %
Anti-EGFR antibody therapy response in metastatic colorectal Carcinoma.

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

NRAS, KRAS, BRAF
Specificity
67 %
Genes
10 %
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
22 %
Genes
56 %
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
19 %
Genes
10 %
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
30 %
Genes
56 %
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
4 %
Genes
15 %
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
6 %
Genes
15 %
Nevus Gene Set.

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

GNA11, GNAQ, PIK3CA, NRAS, KRAS, HRAS, FGFR3
Specificity
29 %
Genes
10 %
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
37 %
Genes
20 %
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
5 %
Genes
15 %
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
25 %
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
6 %
Genes
20 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
5 %
Circulo Lung.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
5 %
Circulo Thyroid.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
5 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
5 %
Circulo Hematological.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
5 %
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE.

By Laboratorio de Genetica Clinica SL in Spain.

CASP10, FASLG, FAS, NRAS, CASP8
Specificity
20 %
Genes
5 %
NOONAN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
43 %
Genes
15 %
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
6 %
Genes
15 %
Noonan Syndrome Type 6 , Sequencing NRAS Gene.

By Reference Laboratory Genetics in Spain.

NRAS
Specificity
100 %
Genes
5 %
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CTLA4, FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
20 %
Genes
10 %
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
10 %
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
10 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
5 %
Overgrowth syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
19 %
Genes
10 %
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
5 %
Genes
10 %
DNMT3A Exon 23 Sequence Analysis.

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

DNMT3A
Specificity
100 %
Genes
5 %
DNMT3A.

By Fulgent Genetics Fulgent Genetics in United States.

DNMT3A
Specificity
100 %
Genes
5 %
DNMT3A Gene Sequencing and Deletion/Duplication Analysis.

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

DNMT3A
Specificity
100 %
Genes
5 %
NGS Overgrowth/Macrocephaly Panel.

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

GLI3, RNF135, EZH2, NFIX, DNMT3A, UPF3B, MED12, CUL4B, PHF6, GPC3, CDKN1C, PTCH1, NSD1, PTEN
Specificity
15 %
Genes
10 %
DNMT3A Sequencing.

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

DNMT3A
Specificity
100 %
Genes
5 %
Overgrowth syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
19 %
Genes
10 %
Overgrowth syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
19 %
Genes
10 %
DNMT3A.

By MGZ Medical Genetics Center in Germany.

DNMT3A
Specificity
100 %
Genes
5 %
AML post-FLT3 Comprehensive Mutation Panel.

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

IDH1, NPM1, DNMT3A, CEBPA, IDH2
Specificity
20 %
Genes
5 %
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
5 %
Genes
10 %
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
29 %
Genes
35 %
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel.

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

TMCO1, DIS3L2, RNF135, EZH2, NFIX, DNMT3A, SETD2, GPC3, CDKN1C, PTCH1, NSD1, PLOD1, PTEN
Specificity
16 %
Genes
10 %
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
24 %
Genes
25 %
Cornelia de Lange Seq Analysis.

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

ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
5 %
Cornelia de Lange Del/Dup Panel.

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

ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
5 %
Bohring-Opitz syndrome (sequence analysis of ASXL1 gene).

By CGC Genetics in Portugal.

ASXL1
Specificity
100 %
Genes
5 %
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
5 %
Bohring-Opitz syndrome.

By Centogene AG - the Rare Disease Company in Germany.

ASXL1
Specificity
100 %
Genes
5 %
ASXL1.

By Fulgent Genetics Fulgent Genetics in United States.

ASXL1
Specificity
100 %
Genes
5 %
Somatic Myelodysplastic Syndrome , Sequencing ASXL1 Gene.

By Reference Laboratory Genetics in Spain.

ASXL1
Specificity
100 %
Genes
5 %
Somatic Myelodysplastic Syndrome , Sequencing Exon 13 ASXL1 Gene.

By Reference Laboratory Genetics in Spain.

ASXL1
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
Cornelia de Lange Seq + Del/Dup Panel.

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

ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8
Specificity
13 %
Genes
5 %
Myeloproliferative/myelodysplastic disorder (sequence analysis of ASXL1 gene).

By CGC Genetics in Portugal.

ASXL1
Specificity
100 %
Genes
5 %
Bohring-Opitz Syndrome via ASXL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ASXL1
Specificity
100 %
Genes
5 %
Single gene testing ASXL1.

By CeGaT GmbH in Germany.

ASXL1
Specificity
100 %
Genes
5 %
ASXL1 Mutation Analysis.

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

ASXL1
Specificity
100 %
Genes
5 %
Bohring-Opitz Syndrome , Sequencing ASXL1 Gene.

By Reference Laboratory Genetics in Spain.

ASXL1
Specificity
100 %
Genes
5 %
KRAS Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

KRAS
Specificity
100 %
Genes
5 %
KRAS related Noonan syndrome.

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

KRAS
Specificity
100 %
Genes
5 %
KRAS gene sequence.

By Ambry Genetics in United States.

KRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome and Cardiofaciocutaneous Syndrome - KRAS Sequence Analysis.

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

KRAS
Specificity
100 %
Genes
5 %
KRAS-Related Noonan Syndrome.

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

KRAS
Specificity
100 %
Genes
5 %
Noonan syndrome (sequence analysis of KRAS gene).

By CGC Genetics in Portugal.

KRAS
Specificity
100 %
Genes
5 %
KRAS-Related Disorders via the KRAS Gene.

By PreventionGenetics PreventionGenetics in United States.

KRAS
Specificity
100 %
Genes
5 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 87 more genes
Specificity
1 %
Genes
5 %
Lynch Syndrome.

By MGZ Medical Genetics Center in Germany.

KRAS, BRAF, MLH1, MSH6, PMS2, MSH2
Specificity
17 %
Genes
5 %
KRAS Sequencing.

By FirmaLab in United States.

KRAS
Specificity
100 %
Genes
5 %
Noonan syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
5 %
Gastric cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
5 %
Lung cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
5 %
Pancreatic carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
5 %
Single gene testing KRAS.

By CeGaT GmbH in Germany.

KRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome.

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

SOS1, PTPN11, KRAS, RAF1
Specificity
50 %
Genes
10 %
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
5 %
CRANEO-FACIAL-CUTANEOUS SYNDROME.

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

MAP2K2, SOS1, MAP2K1, KRAS, BRAF
Specificity
20 %
Genes
5 %
Cardiofaciocutaneous syndrome.

By MedGene in Slovakia.

KRAS
Specificity
100 %
Genes
5 %
Noonan syndrome 3.

By MedGene in Slovakia.

KRAS
Specificity
100 %
Genes
5 %
KRAS Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

KRAS
Specificity
100 %
Genes
5 %
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
5 %
Genes
10 %
KRAS Full Gene Analysis.

By Fulgent Genetics Fulgent Genetics in United States.

KRAS
Specificity
100 %
Genes
5 %
Cardio-Facio-Cutaneous Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MAP2K2, SOS1, MAP2K1, KRAS, BRAF
Specificity
20 %
Genes
5 %
KRAS Mutation Analysis.

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

KRAS
Specificity
100 %
Genes
5 %
Circulo Breast.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
Circulo Ovarian.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
Circulo Thyroid.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
Circulo Hematological.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
Circulo Pancreatic.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
Circulo Gastric.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
LEUKEMIA, ACUTE MYELOGENOUS.

By Laboratorio de Genetica Clinica SL in Spain.

NPM1, KRAS
Specificity
50 %
Genes
5 %
PANCREATIC CARCINOMA.

By Laboratorio de Genetica Clinica SL in Spain.

KRAS
Specificity
100 %
Genes
5 %
Cardiofaciocutaneous Syndrome Type 2, Sequencing KRAS Gene.

By Reference Laboratory Genetics in Spain.

KRAS
Specificity
100 %
Genes
5 %
Cardio-facio-cutaneous syndrome.

By Labor Dr. Wisplinghoff in Germany.

MAP2K2, KRAS, BRAF
Specificity
34 %
Genes
5 %
GeneStrat Genomic Test.

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

ROS1, EGFR, ALK, KRAS, BRAF, RET
Specificity
17 %
Genes
5 %
KRAS Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

KRAS
Specificity
100 %
Genes
5 %
KRAS Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

KRAS
Specificity
100 %
Genes
5 %
KRAS/RAF1/SOS1 DNA Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

SOS1, KRAS, RAF1
Specificity
34 %
Genes
5 %
KRAS DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

KRAS
Specificity
100 %
Genes
5 %
Cardiofaciocutaneous Syndrome.

By Center for Human Genetics, Inc in United States.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
25 %
Genes
5 %
Cardio-facio-cutaneous syndrome.

By Center for Human Genetics, Inc in United States.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
25 %
Genes
5 %
Noonan syndrome 3 (KRAS).

By Center for Human Genetics, Inc in United States.

KRAS
Specificity
100 %
Genes
5 %
Costello Syndrome.

By Center for Human Genetics, Inc in United States.

KRAS, HRAS, BRAF
Specificity
34 %
Genes
5 %
KRAS Mutation Analysis.

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

KRAS
Specificity
100 %
Genes
5 %
KRAS Deletion/duplication analysis.

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

KRAS
Specificity
100 %
Genes
5 %
KRAS Sequencing.

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

KRAS
Specificity
100 %
Genes
5 %
KRAS Molecular Genetic Testing.

By Michigan State University Clinical Genetics Laboratory Michigan State University in United States.

KRAS
Specificity
100 %
Genes
5 %
KRAS-Related Noonan Syndrome.

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

KRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome Panel.

By Ambry Genetics in United States.

SOS1, PTPN11, KRAS, RAF1
Specificity
50 %
Genes
10 %
KRAS. Complete sequencing.

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

KRAS
Specificity
100 %
Genes
5 %
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
50 %
Genes
10 %
KRAS-Related Noonan Syndrome.

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

KRAS
Specificity
100 %
Genes
5 %
KRAS gene (sequence analysis).

By CGC Genetics in Portugal.

KRAS
Specificity
100 %
Genes
5 %
Detection of frequent mutations on KRAS gene.

By CGC Genetics in Portugal.

KRAS
Specificity
100 %
Genes
5 %
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
6 %
Genes
10 %
Cardiofaciocutaneous Syndrome Panel.

By FirmaLab in United States.

MAP2K2, KRAS, BRAF
Specificity
34 %
Genes
5 %
Noonan Syndrome Sequential Panel.

By FirmaLab in United States.

SOS1, PTPN11, KRAS, RAF1
Specificity
50 %
Genes
10 %
Breast cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
5 %
Bladder cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
5 %
Cardiofaciocutaneous syndrome.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
5 %
Noonan syndrome.

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

SOS1, PTPN11, KRAS, BRAF, RAF1
Specificity
40 %
Genes
10 %
Bladder cancer, somatic (KRAS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

KRAS
Specificity
100 %
Genes
5 %
Cardiofaciocutaneous syndrome 2 (KRAS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

KRAS
Specificity
100 %
Genes
5 %
Rasopathies SANGER Panel.

By Health in Code in Spain.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
25 %
Genes
5 %
KRAS gene sequencing.

By Health in Code in Spain.

KRAS
Specificity
100 %
Genes
5 %
Hypertrophic cardiomyopathy with suspected Noonan Syndrome.

By Health in Code in Spain.

PTPN11, KRAS
Specificity
100 %
Genes
10 %
Cardiofaciocutaneous syndrome.

By Praxis fuer Humangenetik Wien in Austria.

KRAS
Specificity
100 %
Genes
5 %
Noonan syndrome 3.

By Praxis fuer Humangenetik Wien in Austria.

KRAS
Specificity
100 %
Genes
5 %
Invitae Cardio-Facio-Cutaneous Syndrome Panel.

By Invitae in United States.

MAP2K2, SOS1, SHOC2, MAP2K1, KRAS, BRAF
Specificity
17 %
Genes
5 %
KRAS: KRAS gene sequence analysis.

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

KRAS
Specificity
100 %
Genes
5 %
Noonan syndrome 3: KRAS gene sequence analysis.

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

KRAS
Specificity
100 %
Genes
5 %
KRAS Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

KRAS
Specificity
100 %
Genes
5 %
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
23 %
Genes
10 %
Short Stature NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EP300, FGD1, NIPBL, SMC1A, SOS1, PTPN11, KRAS, DHCR7, CREBBP, RAF1
Specificity
20 %
Genes
10 %
KRAS.

By Fulgent Genetics Fulgent Genetics in United States.

KRAS
Specificity
100 %
Genes
5 %
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
5 %
KRAS Mutation by PCR.

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

KRAS
Specificity
100 %
Genes
5 %
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
10 %
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
10 %
V-KI-RAS2 Kirsten rat sarcoma viral oncogene Homolog V-KI-RAS-2.

By Bioarray in Spain.

KRAS
Specificity
100 %
Genes
5 %
Lung and colon cancer.

By Bioarray in Spain.

KRAS
Specificity
100 %
Genes
5 %
Breast Tumors Gene Set.

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

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

View the complete list with 22 more genes
Specificity
5 %
Genes
10 %
Cardiofaciocutaneous Syndrome Panel.

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

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
25 %
Genes
5 %
KRAS Gene Sequencing and Deletion/Duplication Analysis.

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

KRAS
Specificity
100 %
Genes
5 %
Circulo Lung.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
5 %
LUNG CANCER, SQUAMOUS CELL.

By Laboratorio de Genetica Clinica SL in Spain.

KRAS
Specificity
100 %
Genes
5 %
CARDIOFACIOCUTANEOUS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
25 %
Genes
5 %
BLADDER CANCER.

By Laboratorio de Genetica Clinica SL in Spain.

KRAS
Specificity
100 %
Genes
5 %
Noonan Syndrome Type 3, Sequencing KRAS Gene.

By Reference Laboratory Genetics in Spain.

KRAS
Specificity
100 %
Genes
5 %
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
5 %
Cardiofaciocutaneous Syndrome , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MAP2K2, SOS1, SHOC2, MAP2K1, KRAS, BRAF
Specificity
17 %
Genes
5 %
PTPN11 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PTPN11
Specificity
100 %
Genes
5 %
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
7 %
Genes
20 %
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
3 %
Genes
10 %
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
5 %
LEOPARD syndrome 1.

By Center for Human Genetics, Inc in United States.

PTPN11
Specificity
100 %
Genes
5 %
Noonan syndrome 1 (PTPN11).

By Center for Human Genetics, Inc in United States.

PTPN11
Specificity
100 %
Genes
5 %
Noonan Syndrome, PTPN11 Sequencing.

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

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
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
5 %
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
5 %
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
5 %
PTPN11. Complete sequencing.

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

PTPN11
Specificity
100 %
Genes
5 %
PTPN11. Sequencing of the exons 7, 12 and 13.

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

PTPN11
Specificity
100 %
Genes
5 %
PTPN11-Related Noonan Syndrome.

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
5 %
PTPN11-Related LEOPARD syndrome.

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
5 %
Noonan Syndrome (sequence analysis of PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
5 %
Leopard syndrome (frequent mutations on PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
5 %
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
10 %
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
10 %
PTPN11-Related LEOPARD Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

PTPN11
Specificity
100 %
Genes
5 %
Leukemia, juvenile myelomonocytic.

By Centogene AG - the Rare Disease Company in Germany.

PTPN11
Specificity
100 %
Genes
5 %
Single gene testing PTPN11.

By CeGaT GmbH in Germany.

PTPN11
Specificity
100 %
Genes
5 %
PTPN11-Related Noonan Syndrome.

By GGA - Galil Genetic Analysis in Israel.

PTPN11
Specificity
100 %
Genes
5 %
PTPN11-Related Noonan Syndrome.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
Noonan syndrome, PTPN11 sequencing.

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

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
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
5 %
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
5 %
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
5 %
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
5 %
Metachondromatosis.

By Praxis fuer Humangenetik Wien in Austria.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD SYNDROME.

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

PTPN11, RAF1
Specificity
50 %
Genes
5 %
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
5 %
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
1 %
Genes
5 %
PTPN11.

By Fulgent Genetics Fulgent Genetics in United States.

PTPN11
Specificity
100 %
Genes
5 %
Leopard syndrome type 1.

By Bioarray in Spain.

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
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
5 %
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
5 %
LEUKEMIA, JUVENILE MYELOMONOCYTIC.

By Laboratorio de Genetica Clinica SL in Spain.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
5 %
Noonan Syndrome Type 1 , Sequencing PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD Syndrome, Sequencing PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD Syndrome, Sequencing Exons (7,12,13) PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
5 %
Noonan Syndrome Type 1 , Sequencing Exons (3,7,8,13) PTPN11 Gene.

By Reference Laboratory Genetics in Spain.

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
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
5 %
PTPN11 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

PTPN11
Specificity
100 %
Genes
5 %
PTPN11 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PTPN11
Specificity
100 %
Genes
5 %
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
31 %
Genes
20 %
Noonan Syndrome (PTPN11) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PTPN11
Specificity
100 %
Genes
5 %
Noonan syndrome.

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

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
PTPN11-Related Noonan syndrome.

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

PTPN11
Specificity
100 %
Genes
5 %
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
3 %
Genes
10 %
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
10 %
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
5 %
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
5 %
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
5 %
Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing.

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

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
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
5 %
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
5 %
PTPN11. Complete sequencing.

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

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
PTPN11-Related Noonan Syndrome.

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

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
PTPN11-Related Noonan syndrome.

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

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD syndrome (sequence analysis of PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD syndrome (sequence analysis of PTPN11 gene).

By CGC Genetics in Portugal.

PTPN11
Specificity
100 %
Genes
5 %
PTPN11-Related Disorders via PTPN11 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PTPN11
Specificity
100 %
Genes
5 %
Noonan syndrome.

By Institute of Human Genetics Cologne University in Germany.

RIT1, PTPN11
Specificity
50 %
Genes
5 %
PTPN11-Related Noonan Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD syndrome.

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

PTPN11
Specificity
100 %
Genes
5 %
Noonan syndrome.

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

SOS1, PTPN11
Specificity
50 %
Genes
5 %
Noonan syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD syndrome.

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

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
5 %
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
5 %
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
5 %
PTPN11 gene sequencing.

By Health in Code in Spain.

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
PTPN11-Related Noonan Syndrome.

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

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

PTPN11
Specificity
100 %
Genes
5 %
Noonan syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

PTPN11
Specificity
100 %
Genes
5 %
LEOPARD syndrome 1.

By MedGene in Slovakia.

PTPN11
Specificity
100 %
Genes
5 %
Metachondromatosis.

By MedGene in Slovakia.

PTPN11
Specificity
100 %
Genes
5 %
Noonan syndrome 1.

By MedGene in Slovakia.

PTPN11
Specificity
100 %
Genes
5 %
Invitae Noonan Syndrome with Multiple Lentigines Panel.

By Invitae in United States.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
5 %
LEOPARD syndrome: PTPN11 gene sequence analysis.

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

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
Noonan syndrome: PTPN11 gene sequence analysis.

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

PTPN11
Specificity
100 %
Genes
5 %
Noonan Syndrome: PTPN11 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTPN11
Specificity
100 %
Genes
5 %
Noonan Syndrome: PTPN11 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTPN11
Specificity
100 %
Genes
5 %
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
5 %
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
2 %
Genes
5 %
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
1 %
Genes
5 %
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
2 %
Genes
5 %
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
5 %
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
5 %
Exostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

EXT1, EXT2, PTPN11
Specificity
34 %
Genes
5 %
Noonan syndrome type 1.

By Bioarray in Spain.

PTPN11
Specificity
100 %
Genes
5 %
Noonan Syndrome Panel by NGS.

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

PTPN11, RAF1
Specificity
50 %
Genes
5 %
LEOPARD Syndrome, Panel Massive Sequencing (NGS) PTPN11, RAF1, BRAF Genes.

By Reference Laboratory Genetics in Spain.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
5 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH in Germany.

EGLN1, EPAS1, EPOR, HBD, LPIN2, C15orf41, EPB42, ANK1, SPTA1, SPTB, RPS7, SH2B3, SEC23B, CDAN1, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
5 %
Erythrocytosis, somatic (sequence analysis of SH2B3 gene).

By CGC Genetics in Portugal.

SH2B3
Specificity
100 %
Genes
5 %
Erythrocytosis, familial type 1.

By Centogene AG - the Rare Disease Company in Germany.

SH2B3
Specificity
100 %
Genes
5 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia.

By BLOODGENETICS BLOODGENETICS in Spain.

BPGM, EGLN1, EPAS1, EPOR, JAK2, SH2B3, VHL
Specificity
15 %
Genes
5 %
Myelofibrosis NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

JAK2, CALR, SH2B3, MPL
Specificity
25 %
Genes
5 %
SH2B3.

By Fulgent Genetics Fulgent Genetics in United States.

SH2B3
Specificity
100 %
Genes
5 %
Somatic Myelofibrosis , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

JAK2, CALR, SH2B3, MPL
Specificity
25 %
Genes
5 %
NGS Vascular Disorders Panel.

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

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

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

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

CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, FANCM , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
10 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

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

WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
10 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

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

CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCI, FANCL, FANCM, SLX4, FANCE , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
10 %
Inherited Neutropenia Deletion/Duplication Panel.

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

WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, GATA2, TAZ, AP3B1, HAX1, SLC37A4
Specificity
10 %
Genes
10 %
GATA2 Deleton/duplication analysis.

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

GATA2
Specificity
100 %
Genes
5 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, USB1, RPS7, SRP72, ERCC4, XRCC2 , (...)

View the complete list with 41 more genes
Specificity
4 %
Genes
10 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RUNX1T1, SLFN14, CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
5 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46 , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
10 %
Neonatal Respiratory Distress Del/Dup Panel.

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

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
5 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

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

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
5 %
Neonatal Respiratory Distress Seq Analysis.

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

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
5 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

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

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
5 %
Humoral dysfunction Seq + Del/Dup Panel.

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

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

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

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

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
5 %
GATA2 deficiency (sequence analysis of GATA2 gene).

By CGC Genetics in Portugal.

GATA2
Specificity
100 %
Genes
5 %
Hereditary neutropenia (NGS panel for 22 genes).

By CGC Genetics in Portugal.

JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
10 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJA1, FLT4, PTPN14, KIF11, VEGFC, CCBE1, SOX18, FAT4, PIEZO1, FOXC2, GATA2, GJC2
Specificity
9 %
Genes
5 %
Severe Congenital Neutropenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMARCD2, WDR1, DNAJC21, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
10 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
5 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
5 %
GATA2 gene.

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

GATA2
Specificity
100 %
Genes
5 %
Single gene testing GATA2.

By CeGaT GmbH in Germany.

GATA2
Specificity
100 %
Genes
5 %
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel.

By Invitae in United States.

IRF8, STAT2, ACP5, ISG15, IL12B, TYK2, IL12RB1, IRAK4, IFNGR2, IFNGR1, MYD88, ADAR, SAMHD1, CYBB, GATA2, STAT1
Specificity
7 %
Genes
5 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

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

View the complete list with 187 more genes
Specificity
2 %
Genes
15 %
Congenital Neutropenia Panel.

By Blueprint Genetics in Finland.

MRTFA, GINS1, SMARCD2, WDR1, CLPB, PGM3, JAGN1, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, IFNGR2, CSF3R, SRP72, CSF2RA, LYST, CTSC, ACTB , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
10 %
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
5 %
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
10 %
Inherited Bone Marrow Failure Panel.

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

TERF1, TERF2, DDX41, POT1, TERF2IP, ACD, GFI1, RPL26, G6PC3, RPL15, ELANE, CSF3R, ETV6, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
10 %
MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS ( MonoMAC SYNDROME ).

By Laboratorio de Genetica Clinica SL in Spain.

GATA2
Specificity
100 %
Genes
5 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 21 more genes
Specificity
3 %
Genes
5 %
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1, SLC37A4
Specificity
10 %
Genes
10 %
GATA2 Sequencing.

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

GATA2
Specificity
100 %
Genes
5 %
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
14 %
Genes
10 %
GATA2 gene screen test.

By Genetic Pathology SA Pathology in Australia.

GATA2
Specificity
100 %
Genes
5 %
GATA2. Complete sequencing.

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

GATA2
Specificity
100 %
Genes
5 %
GATA2 sequencing.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

GATA2
Specificity
100 %
Genes
5 %
Humoral dysfunction Del/Dup Panel.

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

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

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

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

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

View the complete list with 4 more genes
Specificity
5 %
Genes
5 %
Comprehensive Pulmonary-Vascular Seq Analysis.

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

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
5 %
Immunodeficiency 21 (sequence analysis of GATA2 gene).

By CGC Genetics in Portugal.

GATA2
Specificity
100 %
Genes
5 %
Immunodeficiency 21 (sequence analysis of GATA2 gene).

By CGC Genetics in Portugal.

GATA2
Specificity
100 %
Genes
5 %
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
19 %
Genes
10 %
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via GATA2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GATA2
Specificity
100 %
Genes
5 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
5 %
Immunodeficiency type 21.

By Centogene AG - the Rare Disease Company in Germany.

GATA2
Specificity
100 %
Genes
5 %
Emberger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

GATA2
Specificity
100 %
Genes
5 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH in Germany.

ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Vascular and lymphatic disorders Panel.

By CeGaT GmbH in Germany.

SERPING1, FLT4, KIF11, VEGFC, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FAT4, FOXC2, TREX1, PDCD10, CCM2, KRIT1, ENG, GATA2, GJC2
Specificity
6 %
Genes
5 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 39 more genes
Specificity
4 %
Genes
10 %
Invitae GATA2 Deficiency Test.

By Invitae in United States.

GATA2
Specificity
100 %
Genes
5 %
Invitae Bone Marrow Failure Syndromes Panel.

By Invitae in United States.

RPL26, ELANE, RPS7, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, CTC1, TERT, TERC, DKC1 , (...)

View the complete list with 19 more genes
Specificity
6 %
Genes
10 %
GATA2-related disorders (GATA2 gene sequence analysis).

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

GATA2
Specificity
100 %
Genes
5 %
LYMPHEDEMA.

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

FLT4, KIF11, ZMPSTE24, CCBE1, SOX18, FOXC2, LMNA, GATA2, GJC2
Specificity
12 %
Genes
5 %
Hemophagocytic Lymphohistiocytosis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRC4, CD27, ITK, STXBP2, XIAP, STX11, UNC13D, RAB27A, SH2D1A, LYST, BLOC1S6, MAGT1, SLC7A7, PRF1, GATA2, AP3B1
Specificity
7 %
Genes
5 %
GATA2.

By Fulgent Genetics Fulgent Genetics in United States.

GATA2
Specificity
100 %
Genes
5 %
Emberger Syndrome, Sequencing GATA2 Gene.

By Reference Laboratory Genetics in Spain.

GATA2
Specificity
100 %
Genes
5 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, G6PC3, ELANE, CSF3R, JAK2, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, SLX4, FANCE , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
10 %
Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

FLT4, KIF11, VEGFC, ZMPSTE24, SOX18, FOXC2, GATA2
Specificity
15 %
Genes
5 %
CSF2.

By Fulgent Genetics Fulgent Genetics in United States.

CSF2
Specificity
100 %
Genes
5 %
RRAS2.

By Fulgent Genetics Fulgent Genetics in United States.

RRAS2
Specificity
100 %
Genes
5 %
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
5 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
EZH2. Complete sequencing.

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

EZH2
Specificity
100 %
Genes
5 %
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
5 %
Weaver and Cohen-Gibson syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EED, EZH2
Specificity
50 %
Genes
5 %
Weaver and Cohen-Gibson syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EED, EZH2
Specificity
50 %
Genes
5 %
Sotos syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

APC2, EZH2, NFIX, NSD1
Specificity
25 %
Genes
5 %
Sotos syndrome and related disorders Deletion/Duplication panel.

By Connective Tissue Gene Tests in United States.

APC2, EZH2, NFIX, NSD1
Specificity
25 %
Genes
5 %
Sotos syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

APC2, EZH2, NFIX, NSD1
Specificity
25 %
Genes
5 %
Weaver Syndrome (EZH2).

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

EZH2
Specificity
100 %
Genes
5 %
EZH2-Related Overgrowth.

By MGZ Medical Genetics Center in Germany.

EZH2
Specificity
100 %
Genes
5 %
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
5 %
Weaver syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EZH2
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
Weaver, syndrome: EZH2 gene sequence analysis.

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

EZH2
Specificity
100 %
Genes
5 %
EZH2.

By Fulgent Genetics Fulgent Genetics in United States.

EZH2
Specificity
100 %
Genes
5 %
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
5 %
EZH2 Gene Sequencing and Deletion/Duplication Analysis.

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

EZH2
Specificity
100 %
Genes
5 %
WEAVER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

EZH2
Specificity
100 %
Genes
5 %
Weaver Syndrome , Massive Sequencing (NGS) EZH2 Gene.

By Reference Laboratory Genetics in Spain.

EZH2
Specificity
100 %
Genes
5 %
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
5 %
Comprehensive Brain Malformation Panel.

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

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

View the complete list with 86 more genes
Specificity
1 %
Genes
5 %
EZH2 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

EZH2
Specificity
100 %
Genes
5 %
EZH2 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

EZH2
Specificity
100 %
Genes
5 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Weaver syndrome (sequence analysis of EZH2 gene).

By CGC Genetics in Portugal.

EZH2
Specificity
100 %
Genes
5 %
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
5 %
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
5 %
Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EZH2
Specificity
100 %
Genes
5 %
Weaver and Cohen-Gibson syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

EED, EZH2
Specificity
50 %
Genes
5 %
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
5 %
Invitae Weaver Syndrome Test.

By Invitae in United States.

EZH2
Specificity
100 %
Genes
5 %
Overgrowth syndrome.

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

GPC4, EZH2, NFIX, GPC3, NSD1
Specificity
20 %
Genes
5 %
Macrocephaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, GPC3, PTCH1, NSD1, PTEN
Specificity
10 %
Genes
5 %
Weaver syndrome.

By Bioarray in Spain.

EZH2
Specificity
100 %
Genes
5 %
Circulo Hematological.

By Circulogene Theranostics in United States.

EZH2
Specificity
100 %
Genes
5 %
Weaver syndrome.

By Labor Dr. Wisplinghoff in Germany.

EZH2
Specificity
100 %
Genes
5 %
Platelet Disorders.

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

MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, STIM1, TBXAS1, VIPAS39, USF1, P2RY12, KLKB1, P2RX1, PLA2G7, MLPH, FGG, VPS33B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
5 %
Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia.

By Genetic Pathology SA Pathology in Australia.

RUNX1
Specificity
100 %
Genes
5 %
RUNX1-AML1 sequencing.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

RUNX1
Specificity
100 %
Genes
5 %
RT-PCR t(12;21)(TEL/AML1).

By CGC Genetics in Portugal.

ETV6, RUNX1
Specificity
50 %
Genes
5 %
TEL/AML1 fusion gene quantification.

By CGC Genetics in Portugal.

ETV6, RUNX1
Specificity
50 %
Genes
5 %
RT-PCR t(8;21)(AML1/ETO).

By CGC Genetics in Portugal.

RUNX1T1, RUNX1
Specificity
50 %
Genes
5 %
Acute myeloid leukemia (sequence analysis of RUNX1 gene).

By CGC Genetics in Portugal.

RUNX1
Specificity
100 %
Genes
5 %
Detection by FISH of t(8;21) AML1/ETO1.

By CGC Genetics in Portugal.

RUNX1T1, RUNX1
Specificity
50 %
Genes
5 %
Acute myeloid leukemia (AML, deletions/duplications analysis of RUNX1 gene).

By CGC Genetics in Portugal.

RUNX1
Specificity
100 %
Genes
5 %
Acute myeloid leukemia (AML, deletions/duplications analysis of RUNX1 gene).

By CGC Genetics in Portugal.

RUNX1
Specificity
100 %
Genes
5 %
Thrombocytopenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GP9, GP1BB, MASTL, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, ANKRD26, CYCS, RUNX1
Specificity
9 %
Genes
5 %
Thrombocytopenia panel.

By Centogene AG - the Rare Disease Company in Germany.

GP9, GP1BB, MASTL, ITGA2B, ITGB3, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, RUNX1
Specificity
9 %
Genes
5 %
Acute myeloid leukemia.

By Centogene AG - the Rare Disease Company in Germany.

RUNX1
Specificity
100 %
Genes
5 %
Bone marrow failure syndromes with Leukemia Panel.

By CeGaT GmbH in Germany.

CASP10, GATA1, CEBPA, NBN, RUNX1
Specificity
20 %
Genes
5 %
Thrombocytopenia.

By Asper Biogene Asper Biogene LLC in Estonia.

GP9, GP1BB, MASTL, ITGA2B, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, ANKRD26, CYCS, RUNX1
Specificity
8 %
Genes
5 %
RUNX1 Sequence Analysis.

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

RUNX1
Specificity
100 %
Genes
5 %
Invitae Familial Platelet Disorder with Propensity to Myeloid Malignancy Test.

By Invitae in United States.

RUNX1
Specificity
100 %
Genes
5 %
Thrombocytopenia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GP9, GP1BB, MASTL, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, RUNX1
Specificity
10 %
Genes
5 %
Thrombocytopenia Panel.

By Blueprint Genetics in Finland.

ARPC1B, MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
5 %
Familial platelet syndrome with predisposition to acute myelogenous leukemia.

By Bioarray in Spain.

RUNX1
Specificity
100 %
Genes
5 %
Familial Platelet with Propensity to Acute Myeloid Leukemia Syndrome, Sequencing RUNX1 Gene.

By Reference Laboratory Genetics in Spain.

RUNX1
Specificity
100 %
Genes
5 %
RUNX1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RUNX1
Specificity
100 %
Genes
5 %
RUNX1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

RUNX1
Specificity
100 %
Genes
5 %
RUNX1. Complete sequencing.

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

RUNX1
Specificity
100 %
Genes
5 %
AML1/ETO quantification.

By CGC Genetics in Portugal.

RUNX1T1, RUNX1
Specificity
50 %
Genes
5 %
Detection by FISH of t(12;21) ETV6/AML1.

By CGC Genetics in Portugal.

ETV6, RUNX1
Specificity
50 %
Genes
5 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 41 more genes
Specificity
2 %
Genes
5 %
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via RUNX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1
Specificity
100 %
Genes
5 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics in United States.

MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
5 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests in United States.

MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
RUNX1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RUNX1
Specificity
100 %
Genes
5 %
Leukemia, acute myeloid.

By Centogene AG - the Rare Disease Company in Germany.

RUNX1
Specificity
100 %
Genes
5 %
Platelet disorder familial with associated myeloid malignancy.

By Centogene AG - the Rare Disease Company in Germany.

RUNX1
Specificity
100 %
Genes
5 %
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
4 %
Genes
5 %
RUNX1 Sequence Analysis-Somatic.

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

RUNX1
Specificity
100 %
Genes
5 %
aCGH Deletion/Duplication Analysis.

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

SERPIND1, HRG, PLA2G4A, C4BPB, C4BPA, LMAN1, SERPINC1, F13A1, F10, GP9, ACTN1, CFHR4, F7, VKORC1, PROC, RBM8A, G6PC3, STXBP2, ELANE, GP1BB , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
5 %
RUNX1.

By Fulgent Genetics Fulgent Genetics in United States.

RUNX1
Specificity
100 %
Genes
5 %
Platelet Function Disorder Panel.

By Blueprint Genetics in Finland.

ARPC1B, GP9, WIPF1, GP1BB, ITGA2B, ITGB3, NBEAL2, P2RY12, TBXA2R, GP1BA, THPO, BLOC1S6, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

LMAN1, MCFD2, MECOM, SERPINC1, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, F7, VKORC1, PROC, PROS1, RBM8A , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
5 %
FAMILIAL PLATELET SYNDROME WITH PREDISPOSITION TO ACUTE MYELOGENOUS LEUKEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

RUNX1
Specificity
100 %
Genes
5 %
Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

GP9, SRC, GP1BB, JAK2, ITGA2B, ITGB3, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, ANKRD26, CYCS, RUNX1
Specificity
7 %
Genes
5 %
Neutrophil immunodeficiency syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RAC2
Specificity
100 %
Genes
5 %
B-negative SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

LIG4, NHEJ1, RAC2, RAG1, RAG2, DCLRE1C, ADA, AK2
Specificity
13 %
Genes
5 %
Invitae Common Variable Immunodeficiency Panel.

By Invitae in United States.

TNFSF12, IL21R, IL21, PLCG2, PRKCD, TNFRSF13C, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, PIK3CD, RAC2, TNFRSF13B, STAT3
Specificity
6 %
Genes
5 %
Neutropenia.

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

JAGN1, RAC2, GFI1, VPS45, G6PC3, ELANE, CSF3R, WAS, HAX1
Specificity
12 %
Genes
5 %
RAC2 Deletion/duplication analysis.

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

RAC2
Specificity
100 %
Genes
5 %
RAC2 Sequencing.

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

RAC2
Specificity
100 %
Genes
5 %
Comprehensive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, RMRP, PNP , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
10 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

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

View the complete list with 53 more genes
Specificity
2 %
Genes
5 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

DOCK2, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, IKBKB, LCK, CTPS1, BCL10, CD247, CD8A, CORO1A, CD3G, MALT1, IL21R, IL21, B2M, CARD11, PRKDC , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
10 %
Invitae Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

DOCK2, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, IKBKB, LCK, CTPS1, BCL10, CD8A, CD3G, MALT1, IL21R, IL21, B2M, CARD11, ICOS, STK4, RFXAP , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTPRC, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, DCLRE1C, PNP, ADA
Specificity
10 %
Genes
5 %
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, PNP, IL2RG , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
10 %
RAC2.

By Fulgent Genetics Fulgent Genetics in United States.

RAC2
Specificity
100 %
Genes
5 %
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

RAC2, LAMTOR2, GFI1, G6PC3, ELANE, CSF3R, WAS, TAZ, HAX1
Specificity
12 %
Genes
5 %
Noonan-Like Syndrome via RRAS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RRAS
Specificity
100 %
Genes
5 %
MLLT11.

By Fulgent Genetics Fulgent Genetics in United States.

MLLT11
Specificity
100 %
Genes
5 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
5 %
SETBP1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

SETBP1
Specificity
100 %
Genes
5 %
Schinzel-Giedion midface retraction syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SETBP1
Specificity
100 %
Genes
5 %
Single gene testing SETBP1.

By CeGaT GmbH in Germany.

SETBP1
Specificity
100 %
Genes
5 %
SETBP1.

By Fulgent Genetics Fulgent Genetics in United States.

SETBP1
Specificity
100 %
Genes
5 %
Schinzel-Giedion midface retraction syndrome.

By Bioarray in Spain.

SETBP1
Specificity
100 %
Genes
5 %
SCHINZEL-GIEDION SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SETBP1
Specificity
100 %
Genes
5 %
Schinzel-Giedion Syndrome , Sequencing SETBP1 Gene.

By Reference Laboratory Genetics in Spain.

SETBP1
Specificity
100 %
Genes
5 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc in United States.

ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, SETBP1, SERPINI1, KIF1BP, KCNJ10, ANKRD11, PIGV, PIGN, PIGA, ROGDI, KANSL1, MAGI2, KMT2D, LGI1, KCNA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
SETBP1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

SETBP1
Specificity
100 %
Genes
5 %
SETBP1. Complete sequencing.

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

SETBP1
Specificity
100 %
Genes
5 %
Schinzel-Giedion syndrome (sequence analysis of SETBP1 gene).

By CGC Genetics in Portugal.

SETBP1
Specificity
100 %
Genes
5 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
5 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

ZBTB18, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CDH15, CACNG2, EPB41L1, ZMYND11, DPP6, ARID1A, SMARCB1, SMARCA4, CTNNB1, ARID1B, EHMT1, KIRREL3, ADNP, SETBP1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Schinzel-Giedion syndrome.

By Labor Dr. Wisplinghoff in Germany.

SETBP1
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, IL2RG, ADA
Specificity
13 %
Genes
5 %
Severe Combined Immunodeficiency (SCID): JAK3 (Known mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

JAK3
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency (SCID): Two-gene Profile (IL2RG, JAK3) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

JAK3, IL2RG
Specificity
50 %
Genes
5 %
JAK3 Gene Sequencing.

By GeneDx in United States.

JAK3
Specificity
100 %
Genes
5 %
JAK3. Complete sequencing.

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

JAK3
Specificity
100 %
Genes
5 %
Severe combined immunodeficiency Seq + Del/Dup Panel.

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

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
Severe combined immunodeficiency Del/dup Panel.

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

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
Severe combined immunodeficiency, T-/B+ by JAK3 deficiency (sequence analysis of JAK3 gene).

By CGC Genetics in Portugal.

JAK3
Specificity
100 %
Genes
5 %
JAK3 Gene.

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

JAK3
Specificity
100 %
Genes
5 %
Severe combined immunodeficiency (SCID) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CD8A, CORO1A, CD3G, IL2RA, PRKDC, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, STIM1, JAK3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 40 more genes
Specificity
2 %
Genes
5 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
5 %
Invitae T-B+NK- Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

JAK3, IL2RG
Specificity
50 %
Genes
5 %
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, ZAP70, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, PNP, IL2RG
Specificity
8 %
Genes
5 %
JAK3.

By Fulgent Genetics Fulgent Genetics in United States.

JAK3
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 59 more genes
Specificity
2 %
Genes
5 %
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

IKBKB, CD247, CORO1A, CARD11, PRKDC, FOXN1, ORAI1, PTPRC, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, DCLRE1C, RMRP, IL2RG, ADA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Sever Combined T-B Immune Deficiency due to JAK3 Deficiency , Sequencing JAK3 Gene.

By Reference Laboratory Genetics in Spain.

JAK3
Specificity
100 %
Genes
5 %
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

FOXN1, ORAI1, PTPRC, STAT5B, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, DCLRE1C, PNP, IL2RG, ADA, AK2
Specificity
6 %
Genes
5 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, DCLRE1C, IL2RG, ADA
Specificity
12 %
Genes
5 %
Severe Combined Immunodeficiency (SCID): JAK3 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

JAK3
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

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

FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, RMRP, PNP, IL2RG, ADA
Specificity
5 %
Genes
5 %
JAK3 Sequencing.

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

JAK3
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.

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

FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, RMRP, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
JAK3 Deletion/duplication analysis.

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

JAK3
Specificity
100 %
Genes
5 %
Severe combined immunodeficency Seq Analysis.

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

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
Severe combined immunodeficiency, AR, T- B+ (deletion/duplication analysis of JAK3 gene).

By CGC Genetics in Portugal.

JAK3
Specificity
100 %
Genes
5 %
Severe combined immunodeficiency, AR, T- B+ (deletion/duplication analysis of JAK3 gene).

By CGC Genetics in Portugal.

JAK3
Specificity
100 %
Genes
5 %
B-positive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, ZAP70, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, RMRP, PNP, IL2RG
Specificity
7 %
Genes
5 %
SCID autosomal recessive T negative B positive type.

By Centogene AG - the Rare Disease Company in Germany.

JAK3
Specificity
100 %
Genes
5 %
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive.

By Department of Clinical Immunology Odense University Hospital in Denmark.

JAK3
Specificity
100 %
Genes
5 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

CD247, CORO1A, PRKDC, PTPRC, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, DCLRE1C, PNP, IL2RG, ADA, AK2
Specificity
6 %
Genes
5 %
SCID, autosomal recessive, T-negative/B-positive type.

By Bioarray in Spain.

JAK3
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel.

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

RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, DCLRE1C, IL2RG, ADA
Specificity
12 %
Genes
5 %
JAK3 Gene Sequencing and Deletion/Duplication Analysis.

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

JAK3
Specificity
100 %
Genes
5 %
Circulo Hematological.

By Circulogene Theranostics in United States.

JAK3
Specificity
100 %
Genes
5 %
SEVERE COMBINED IMMUNODEFICIENCY (SCID) T- B- NK-, (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

JAK3
Specificity
100 %
Genes
5 %
CBL. Complete sequencing.

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

CBL
Specificity
100 %
Genes
5 %
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia - CBL Sequence Analysis.

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

CBL
Specificity
100 %
Genes
5 %
Noonan-like syndrome with or without juvenile myelomonocytic leukemia 1 (sequence analysis of CBL gene).

By CGC Genetics in Portugal.

CBL
Specificity
100 %
Genes
5 %
CBL-Related Disorders via the CBL Gene.

By PreventionGenetics PreventionGenetics in United States.

CBL
Specificity
100 %
Genes
5 %
CBL.

By Fulgent Genetics Fulgent Genetics in United States.

CBL
Specificity
100 %
Genes
5 %
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.

By Bioarray in Spain.

CBL
Specificity
100 %
Genes
5 %
CBL Gene Sequencing and Deletion/Duplication Analysis.

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

CBL
Specificity
100 %
Genes
5 %
FoundationOne®.

By Foundation Medicine, Inc. in United States.

ABL1, CBL
Specificity
50 %
Genes
5 %
Noonan-Like Syndrome with or without Juvenile Myelomonocytic Leukemia , Sequencing CBL Gene.

By Reference Laboratory Genetics in Spain.

CBL
Specificity
100 %
Genes
5 %
Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia.

By Centogene AG - the Rare Disease Company in Germany.

CBL
Specificity
100 %
Genes
5 %
Hypertrophic Cardiomyopathy (HCM) Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 18 more genes
Specificity
3 %
Genes
5 %
ARHGAP26.

By Fulgent Genetics Fulgent Genetics in United States.

ARHGAP26
Specificity
100 %
Genes
5 %

Alternate names

Juvenile Myelomonocytic Leukemia; Jmml Is also known as leukemia, juvenile myelomonocytic;jmml; juvenile chronic myelomonocytic leukemia.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEVUS, EPIDERMAL PALLISTER-HALL SYNDROME HISTIDINEMIA CHILBLAIN LUPUS 2; CHBL2 FARBER LIPOGRANULOMATOSIS; FRBRL ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

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