Cardiofaciocutaneous Syndrome 1; Cfc1

Description

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported (Linden and Price, 2011).Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1 ) and Costello syndrome (OMIM ). Genetic Heterogeneity of Cardiofaciocutaneous SyndromeOther forms of cardiofaciocutaneous syndrome include CFC2 (OMIM ), caused by mutation in the KRAS gene (OMIM ); CFC3 (OMIM ), caused by mutation in the MAP2K1 gene (OMIM ); and CFC4 (OMIM ), caused by mutation in the MAP2K2 gene (OMIM ). The protein products of these causative genes, including BRAF, interact in a common RAS/ERK (see {601795}) pathway that regulates cell differentiation, proliferation, and apoptosis (summary by Roberts et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Cardiofaciocutaneous Syndrome 1; Cfc1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Growth delay
And another 157 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Cardiofaciocutaneous Syndrome 1; Cfc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BRAF Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRAF
Specificity
100 %
Genes
25 %
BRAF Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

BRAF
Specificity
100 %
Genes
25 %
BRAF Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

BRAF
Specificity
100 %
Genes
25 %
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
100 %
Syndromic Autism Panel.

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

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

View the complete list with 63 more genes
Specificity
2 %
Genes
25 %
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
100 %
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
18 %
Genes
100 %
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
100 %
Cardiofaciocutaneous Syndrome.

By Center for Human Genetics, Inc in United States.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
100 %
Genes
100 %
Cardio-facio-cutaneous syndrome.

By Center for Human Genetics, Inc in United States.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
100 %
Genes
100 %
Costello Syndrome.

By Center for Human Genetics, Inc in United States.

KRAS, HRAS, BRAF
Specificity
67 %
Genes
50 %
Leopard Syndrome.

By Center for Human Genetics, Inc in United States.

BRAF
Specificity
100 %
Genes
25 %
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
19 %
Genes
50 %
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
20 %
Genes
100 %
BRAF hotspot muatation analysis.

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

BRAF
Specificity
100 %
Genes
25 %
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
100 %
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
100 %
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
25 %
MyeloidDx by NGS.

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

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

View the complete list with 33 more genes
Specificity
4 %
Genes
50 %
MyeloidDx by NGS.

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

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

View the complete list with 33 more genes
Specificity
4 %
Genes
50 %
BRAF-Cardiofaciocutaneous syndrome.

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

BRAF
Specificity
100 %
Genes
25 %
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
29 %
Genes
100 %
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
40 %
Genes
100 %
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
31 %
Genes
100 %
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
34 %
Genes
100 %
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
29 %
Genes
100 %
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
100 %
Noonan Spectrum Disorders Panel.

By GeneDx in United States.

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
37 %
Genes
100 %
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
6 %
Genes
100 %
BRAF-Related Cardiofaciocutaneous Syndrome.

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

BRAF
Specificity
100 %
Genes
25 %
BRAF-Related LEOPARD Syndrome.

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

BRAF
Specificity
100 %
Genes
25 %
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
100 %
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
5 %
Genes
100 %
Lynch Syndrome Paired Testing.

By Ambry Genetics in United States.

NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
25 %
Genes
50 %
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
50 %
TumorNext-Lynch.

By Ambry Genetics in United States.

NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
25 %
Genes
50 %
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
6 %
Genes
50 %
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
12 %
Genes
100 %
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
100 %
BRAF Exon 15 Sequencing.

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

BRAF
Specificity
100 %
Genes
25 %
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
100 %
BRAF-Related Cardiofaciocutaneous Syndrome.

By CGC Genetics in Portugal.

BRAF
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome (sequence analysis of BRAF gene).

By CGC Genetics in Portugal.

BRAF
Specificity
100 %
Genes
25 %
Detection of V600E mutations on BRAF gene.

By CGC Genetics in Portugal.

BRAF
Specificity
100 %
Genes
25 %
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
31 %
Genes
100 %
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
100 %
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
27 %
Genes
100 %
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
20 %
Genes
100 %
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
100 %
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
5 %
Genes
100 %
BRAF-Related Disorders via BRAF Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRAF
Specificity
100 %
Genes
25 %
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
100 %
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
2 %
Genes
50 %
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
16 %
Genes
100 %
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
16 %
Genes
100 %
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
16 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
7 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

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

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
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
24 %
Genes
75 %
Colorectal adenocarcinoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

PIK3CA, NRAS, KRAS, BRAF
Specificity
50 %
Genes
50 %
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
75 %
Melanoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

GNA11, GNAQ, KIT, NRAS, BRAF
Specificity
20 %
Genes
25 %
Lynch Syndrome.

By MGZ Medical Genetics Center in Germany.

KRAS, BRAF, MLH1, MSH6, PMS2, MSH2
Specificity
34 %
Genes
50 %
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
3 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
RASopathies.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
27 %
Genes
100 %
Cardiofaciocutaneous Syndrome Panel.

By FirmaLab in United States.

MAP2K2, KRAS, BRAF
Specificity
100 %
Genes
75 %
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
100 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 34 more genes
Specificity
4 %
Genes
50 %
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
3 %
Genes
50 %
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
5 %
Genes
75 %
BRAF, selective sequencing of exon 15.

By Centogene AG - the Rare Disease Company in Germany.

BRAF
Specificity
100 %
Genes
25 %
LEOPARD syndrome 3.

By Centogene AG - the Rare Disease Company in Germany.

BRAF
Specificity
100 %
Genes
25 %
Adenocarcinoma of lung, somatic.

By Centogene AG - the Rare Disease Company in Germany.

BRAF
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Centogene AG - the Rare Disease Company in Germany.

BRAF
Specificity
100 %
Genes
25 %
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
50 %
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
100 %
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
100 %
Noonan syndrome type 7.

By Centogene AG - the Rare Disease Company in Germany.

BRAF
Specificity
100 %
Genes
25 %
Lung cancer.

By Centogene AG - the Rare Disease Company in Germany.

BRAF
Specificity
100 %
Genes
25 %
LEOPARD syndrome.

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

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
25 %
Noonan syndrome.

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

SOS1, PTPN11, KRAS, BRAF, RAF1
Specificity
40 %
Genes
50 %
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
18 %
Genes
100 %
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
18 %
Genes
100 %
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
18 %
Genes
100 %
Basal ganglia calcification Panel.

By CeGaT GmbH in Germany.

XPR1, PDGFB, PDGFRB, TBCE, ERCC8, SLC20A2, TREM2, CTC1, ADAR, IFIH1, ERCC6, GATA3, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
25 %
Noonan Syndrome.

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

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
43 %
Genes
75 %
BRAF-Related Noonan Syndrome.

By Innovagenomics Innovagenomics S.L in Spain.

BRAF
Specificity
100 %
Genes
25 %
BRAF-Related Cardiofaciocutaneous Syndrome.

By Innovagenomics Innovagenomics S.L in Spain.

BRAF
Specificity
100 %
Genes
25 %
Adenocarcinoma of lung, somatic (BRAF).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

BRAF
Specificity
100 %
Genes
25 %
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
100 %
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
25 %
Rasopathies SANGER Panel.

By Health in Code in Spain.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
100 %
Genes
100 %
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
100 %
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
25 %
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
100 %
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
100 %
Rasopathies NGS Panel.

By Health in Code in Spain.

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
34 %
Genes
100 %
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
100 %
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
5 %
Genes
100 %
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
100 %
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
2 %
Genes
100 %
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
6 %
Genes
100 %
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
100 %
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
100 %
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
23 %
Genes
100 %
Cardiofaciocutaneous syndrome.

By Praxis fuer Humangenetik Wien in Austria.

BRAF
Specificity
100 %
Genes
25 %
LEOPARD syndrome 3.

By Praxis fuer Humangenetik Wien in Austria.

BRAF
Specificity
100 %
Genes
25 %
Noonan syndrome 7.

By Praxis fuer Humangenetik Wien in Austria.

BRAF
Specificity
100 %
Genes
25 %
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
22 %
Genes
100 %
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
19 %
Genes
75 %
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
80 %
Genes
100 %
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
4 %
Genes
100 %
Cardiofaciocutaneous syndrome.

By MedGene in Slovakia.

BRAF
Specificity
100 %
Genes
25 %
LEOPARD syndrome 3.

By MedGene in Slovakia.

BRAF
Specificity
100 %
Genes
25 %
Noonan syndrome 7.

By MedGene in Slovakia.

BRAF
Specificity
100 %
Genes
25 %
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
5 %
Genes
100 %
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
100 %
Invitae Cardio-Facio-Cutaneous Syndrome Panel.

By Invitae in United States.

MAP2K2, SOS1, SHOC2, MAP2K1, KRAS, BRAF
Specificity
67 %
Genes
100 %
Invitae Noonan Syndrome with Multiple Lentigines Panel.

By Invitae in United States.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
25 %
Invitae Noonan Syndrome Panel.

By Invitae in United States.

A2ML1, RRAS, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
29 %
Genes
100 %
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
23 %
Genes
100 %
Cardio-Facio-Cutaneous syndrome: BRAF gene sequence analysis.

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

BRAF
Specificity
100 %
Genes
25 %
Noonan syndrome 7: BRAF gene sequence analysis.

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

BRAF
Specificity
100 %
Genes
25 %
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
10 %
Genes
100 %
ONCOLOGY, PANEL.

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

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

View the complete list with 60 more genes
Specificity
2 %
Genes
25 %
BRAF-Related Disorders: BRAF Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRAF
Specificity
100 %
Genes
25 %
BRAF Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRAF
Specificity
100 %
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
100 %
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
25 %
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
24 %
Genes
75 %
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
4 %
Genes
100 %
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
25 %
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
7 %
Genes
100 %
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
7 %
Genes
100 %
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
4 %
Genes
100 %
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
45 %
Genes
100 %
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
100 %
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
25 %
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
100 %
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
50 %
BRAF Full Gene Sequencing.

By Fulgent Genetics Fulgent Genetics in United States.

BRAF
Specificity
100 %
Genes
25 %
Cardio-Facio-Cutaneous Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MAP2K2, SOS1, MAP2K1, KRAS, BRAF
Specificity
80 %
Genes
100 %
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
7 %
Genes
100 %
BRAF.

By Fulgent Genetics Fulgent Genetics in United States.

BRAF
Specificity
100 %
Genes
25 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Hemato-oncology chromosomal microarray.

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

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

View the complete list with 72 more genes
Specificity
2 %
Genes
25 %
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
3 %
Genes
100 %
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
6 %
Genes
100 %
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
11 %
Genes
100 %
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
6 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 126 more genes
Specificity
3 %
Genes
100 %
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
2 %
Genes
100 %
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
4 %
Genes
100 %
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
3 %
Genes
100 %
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
19 %
Genes
100 %
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
25 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 288 more genes
Specificity
2 %
Genes
100 %
Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

MYL3, MYL2, CSRP3, TNNT2, TPM1, TNNI3, TNNC1, ACTC1, LAMP2, TCAP, MYBPC3, FHL1, LDB3, FLNC, MYH7, BRAF, CRYAB
Specificity
6 %
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
50 %
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
100 %
BRAF Mutation by RT-PCR.

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

BRAF
Specificity
100 %
Genes
25 %
BRAF Mutation Analysis.

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

BRAF
Specificity
100 %
Genes
25 %
BRAF Mutation Analysis (cobas®).

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

BRAF
Specificity
100 %
Genes
25 %
Focus::Myeloid™ NGS Panel.

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

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

View the complete list with 34 more genes
Specificity
4 %
Genes
50 %
Focus::Myeloid™ NGS Panel.

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

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

View the complete list with 30 more genes
Specificity
4 %
Genes
50 %
Focus::MDS™ NGS Panel.

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

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

View the complete list with 7 more genes
Specificity
8 %
Genes
50 %
Liquid::Lung-cfDNA™ NGS Panel.

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

ROS1, ERBB2, EGFR, PIK3CA, MET, ALK, NRAS, MAP2K1, KRAS, BRAF, TP53
Specificity
28 %
Genes
75 %
Focus::AML™ NGS Panel.

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

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

View the complete list with 17 more genes
Specificity
6 %
Genes
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
12 %
Genes
100 %
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
12 %
Genes
75 %
Focus::Renal® NGS Panel.

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

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

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
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
50 %
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
50 %
Noonan syndrome type 7.

By Bioarray in Spain.

BRAF
Specificity
100 %
Genes
25 %
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
4 %
Genes
100 %
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
5 %
Genes
100 %
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
7 %
Genes
100 %
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
13 %
Genes
100 %
Hematopoietic Disorders Gene Set.

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

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

View the complete list with 34 more genes
Specificity
4 %
Genes
50 %
CNS Tumor Gene Set.

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

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

View the complete list with 28 more genes
Specificity
5 %
Genes
50 %
Melanoma Gene Set.

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

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

View the complete list with 18 more genes
Specificity
11 %
Genes
100 %
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
10 %
Genes
100 %
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
3 %
Genes
25 %
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
100 %
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
6 %
Genes
50 %
Cardiofaciocutaneous Syndrome Panel.

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

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
100 %
Genes
100 %
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
34 %
Genes
75 %
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
100 %
BRAF Gene Sequencing and Deletion/Duplication Analysis.

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

BRAF
Specificity
100 %
Genes
25 %
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
75 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

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

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
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
6 %
Genes
100 %
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
6 %
Genes
75 %
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
100 %
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
4 %
Genes
50 %
Circulo Lung.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
Circulo Ovarian.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
Circulo GIST.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
Circulo Breast.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
Circulo Thyroid.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
Circulo Gastric.

By Circulogene Theranostics in United States.

BRAF
Specificity
100 %
Genes
25 %
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
2 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

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

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
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
3 %
Genes
100 %
LUNG ADENOCARCINOMA.

By Laboratorio de Genetica Clinica SL in Spain.

BRAF
Specificity
100 %
Genes
25 %
CARDIOFACIOCUTANEOUS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

MAP2K2, MAP2K1, KRAS, BRAF
Specificity
100 %
Genes
100 %
NOONAN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
43 %
Genes
75 %
LEOPARD SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
25 %
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
8 %
Genes
100 %
Cardiofaciocutaneous Syndrome Type 1, Sequencing BRAF Gene.

By Reference Laboratory Genetics in Spain.

BRAF
Specificity
100 %
Genes
25 %
Noonan Syndrome Type 7 , Sequencing BRAF Gene.

By Reference Laboratory Genetics in Spain.

BRAF
Specificity
100 %
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
75 %
Cardiofaciocutaneous Syndrome , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MAP2K2, SOS1, SHOC2, MAP2K1, KRAS, BRAF
Specificity
67 %
Genes
100 %
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
25 %
LEOPARD Syndrome, Panel Massive Sequencing (NGS) PTPN11, RAF1, BRAF Genes.

By Reference Laboratory Genetics in Spain.

PTPN11, BRAF, RAF1
Specificity
34 %
Genes
25 %
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

ERBB2, IDH1, EGFR, PIK3CA, LGI1, BRAF, PRKN, IDH2, RB1, TP53, PTEN, BRCA2
Specificity
9 %
Genes
25 %
Cardio-facio-cutaneous syndrome.

By Labor Dr. Wisplinghoff in Germany.

MAP2K2, KRAS, BRAF
Specificity
100 %
Genes
75 %
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
6 %
Genes
100 %
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
5 %
Genes
100 %
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
5 %
Genes
100 %
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
6 %
Genes
100 %
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
9 %
Genes
100 %
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
9 %
Genes
100 %
GeneStrat Genomic Test.

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

ROS1, EGFR, ALK, KRAS, BRAF, RET
Specificity
34 %
Genes
50 %
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
3 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

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

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

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

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
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
50 %
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
50 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 12 more genes
Specificity
7 %
Genes
50 %
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
25 %
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
5 %
Genes
25 %
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
10 %
Genes
75 %
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
5 %
Genes
50 %
MAP2K2 related Cardiofaciocutaneous syndrome.

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

MAP2K2
Specificity
100 %
Genes
25 %
MAP2K2-Related Cardiofaciocutaneous.

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

MAP2K2
Specificity
100 %
Genes
25 %
MAP2K2. Complete sequencing.

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

MAP2K2
Specificity
100 %
Genes
25 %
MAP2K2. Detection of the mutations p.Phe57Val and p.Tyr134His by sequencing.

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

MAP2K2
Specificity
100 %
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
28 %
Genes
75 %
Cardiofaciocutaneous Syndrome - MAP2K2 Sequence Analysis.

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

MAP2K2
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome 4 (sequence analysis of MAP2K2 gene).

By CGC Genetics in Portugal.

MAP2K2
Specificity
100 %
Genes
25 %
Cardio-Facio-Cutaneous Syndrome via MAP2K2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAP2K2
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MAP2K2
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MAP2K2
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By MedGene in Slovakia.

MAP2K2
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous Syndrome, MAP2K2-Related: MAP2K2 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAP2K2
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous Syndrome, MAP2K2-Related: MAP2K2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAP2K2
Specificity
100 %
Genes
25 %
MAP2K2.

By Fulgent Genetics Fulgent Genetics in United States.

MAP2K2
Specificity
100 %
Genes
25 %
MAP2K2 Gene Sequencing and Deletion/Duplication Analysis.

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

MAP2K2
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous Syndrome Type 4, Sequencing MAP2K2 Gene.

By Reference Laboratory Genetics in Spain.

MAP2K2
Specificity
100 %
Genes
25 %
MAP2K1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1 related Cardiofaciocutaneous syndrome.

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

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1-Related Cardiofaciocutaneous.

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

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1. Sequencing of the exons 2, 3 and 6.

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

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1. Complete sequencing.

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

MAP2K1
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous Syndrome.

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

MAP2K1
Specificity
100 %
Genes
25 %
Noonan Syndrome and Cardiofaciocutaneous Syndrome - MAP2K1 Sequence Analysis.

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

MAP2K1
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome (sequence analysis of MAP2K1 gene).

By CGC Genetics in Portugal.

MAP2K1
Specificity
100 %
Genes
25 %
Cardio-Facio-Cutaneous Syndrome via MAP2K1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAP2K1
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MAP2K1
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MAP2K1
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By MedGene in Slovakia.

MAP2K1
Specificity
100 %
Genes
25 %
Cardio-Facio-Cutaneous syndrome: MAP2K1 gene sequence analysis.

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

MAP2K1
Specificity
100 %
Genes
25 %
Noonan, Síndrome de: Secuenciación gen MAP2K1.

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

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1-Related Disorders: MAP2K1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1-Related Disorders: MAP2K1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1.

By Fulgent Genetics Fulgent Genetics in United States.

MAP2K1
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Bioarray in Spain.

MAP2K1
Specificity
100 %
Genes
25 %
MAP2K1 Gene Sequencing and Deletion/Duplication Analysis.

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

MAP2K1
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous Syndrome Type 3, Sequencing MAP2K1 Gene.

By Reference Laboratory Genetics in Spain.

MAP2K1
Specificity
100 %
Genes
25 %
KRAS Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

KRAS
Specificity
100 %
Genes
25 %
KRAS Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

KRAS
Specificity
100 %
Genes
25 %
KRAS Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

KRAS
Specificity
100 %
Genes
25 %
KRAS/RAF1/SOS1 DNA Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

SOS1, KRAS, RAF1
Specificity
34 %
Genes
25 %
KRAS DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

KRAS
Specificity
100 %
Genes
25 %
Noonan syndrome 3 (KRAS).

By Center for Human Genetics, Inc in United States.

KRAS
Specificity
100 %
Genes
25 %
Juvenile Myelomonocytic Leukemia.

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

SH2B3, JAK3, ASXL1, SETBP1, NF1, CBL, PTPN11, NRAS, KRAS
Specificity
12 %
Genes
25 %
KRAS Mutation Analysis.

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

KRAS
Specificity
100 %
Genes
25 %
KRAS related Noonan syndrome.

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

KRAS
Specificity
100 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS).

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

FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
12 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.

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

FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
12 %
Genes
25 %
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
25 %
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
25 %
KRAS Molecular Genetic Testing.

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

KRAS
Specificity
100 %
Genes
25 %
KRAS-Related Noonan Syndrome.

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

KRAS
Specificity
100 %
Genes
25 %
Noonan Syndrome Panel.

By Ambry Genetics in United States.

SOS1, PTPN11, KRAS, RAF1
Specificity
25 %
Genes
25 %
TumorNext-Lynch+OvaNext.

By Ambry Genetics in United States.

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

View the complete list with 7 more genes
Specificity
4 %
Genes
25 %
KRAS gene sequence.

By Ambry Genetics in United States.

KRAS
Specificity
100 %
Genes
25 %
KRAS. Complete sequencing.

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

KRAS
Specificity
100 %
Genes
25 %
PTPN11, RAF1, SOS1, KRAS, BRAF. NextGeneDx.Complete sequencing by NGS.

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

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

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

KRAS
Specificity
100 %
Genes
25 %
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
25 %
KRAS-Related Noonan Syndrome.

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

KRAS
Specificity
100 %
Genes
25 %
Noonan syndrome (sequence analysis of KRAS gene).

By CGC Genetics in Portugal.

KRAS
Specificity
100 %
Genes
25 %
KRAS gene (sequence analysis).

By CGC Genetics in Portugal.

KRAS
Specificity
100 %
Genes
25 %
Detection of frequent mutations on KRAS gene.

By CGC Genetics in Portugal.

KRAS
Specificity
100 %
Genes
25 %
Noonan syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SOS1, PTPN11, NRAS, KRAS, RAF1
Specificity
20 %
Genes
25 %
Peripheral Nerve Sheath Tumor NGS panel.

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

SMARCB1, LZTR1, NF1, NF2, PTPN11, KRAS
Specificity
17 %
Genes
25 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 18 more genes
Specificity
3 %
Genes
25 %
KRAS-Related Disorders via the KRAS Gene.

By PreventionGenetics PreventionGenetics in United States.

KRAS
Specificity
100 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRKCD, CTLA4, FADD, LRBA, PIK3CD, ITK, CASP10, FASLG, XIAP, FAS, SH2D1A, MAGT1, NRAS, KRAS, STAT3, CASP8
Specificity
7 %
Genes
25 %
Noonan Syndrome.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, CBL, SOS1, SHOC2, PTPN11, NRAS, KRAS, RAF1
Specificity
12 %
Genes
25 %
Noonan Syndrome Sequential Panel.

By FirmaLab in United States.

SOS1, PTPN11, KRAS, RAF1
Specificity
25 %
Genes
25 %
KRAS Sequencing.

By FirmaLab in United States.

KRAS
Specificity
100 %
Genes
25 %
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ITCH, IL2RA, FADD, LRBA, CASP10, FASLG, FAS, FOXP3, NRAS, KRAS, AIRE, CASP8
Specificity
9 %
Genes
25 %
Noonan syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
25 %
Gastric cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
25 %
Breast cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
25 %
Bladder cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
25 %
Lung cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
25 %
Pancreatic carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Centogene AG - the Rare Disease Company in Germany.

KRAS
Specificity
100 %
Genes
25 %
Single gene testing KRAS.

By CeGaT GmbH in Germany.

KRAS
Specificity
100 %
Genes
25 %
Noonan Syndrome.

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

SOS1, PTPN11, KRAS, RAF1
Specificity
25 %
Genes
25 %
Bladder cancer, somatic (KRAS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

KRAS
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome 2 (KRAS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

KRAS
Specificity
100 %
Genes
25 %
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
25 %
KRAS gene sequencing.

By Health in Code in Spain.

KRAS
Specificity
100 %
Genes
25 %
Hypertrophic cardiomyopathy with suspected Noonan Syndrome.

By Health in Code in Spain.

PTPN11, KRAS
Specificity
50 %
Genes
25 %
Primary lymphedema and Hydrops fetalis.

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

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

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
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
4 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By Praxis fuer Humangenetik Wien in Austria.

KRAS
Specificity
100 %
Genes
25 %
Noonan syndrome 3.

By Praxis fuer Humangenetik Wien in Austria.

KRAS
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous syndrome.

By MedGene in Slovakia.

KRAS
Specificity
100 %
Genes
25 %
Noonan syndrome 3.

By MedGene in Slovakia.

KRAS
Specificity
100 %
Genes
25 %
KRAS: KRAS gene sequence analysis.

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

KRAS
Specificity
100 %
Genes
25 %
Noonan syndrome 3: KRAS gene sequence analysis.

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

KRAS
Specificity
100 %
Genes
25 %
COLON, BREAST AND OVARIAN CANCER.

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

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

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
KRAS Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

KRAS
Specificity
100 %
Genes
25 %
KRAS Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 25 more genes
Specificity
3 %
Genes
25 %
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
25 %
Short Stature NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EP300, FGD1, NIPBL, SMC1A, SOS1, PTPN11, KRAS, DHCR7, CREBBP, RAF1
Specificity
10 %
Genes
25 %
KRAS Full Gene Analysis.

By Fulgent Genetics Fulgent Genetics in United States.

KRAS
Specificity
100 %
Genes
25 %
KRAS.

By Fulgent Genetics Fulgent Genetics in United States.

KRAS
Specificity
100 %
Genes
25 %
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
25 %
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
2 %
Genes
25 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 255 more genes
Specificity
1 %
Genes
25 %
KRAS Mutation by PCR.

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

KRAS
Specificity
100 %
Genes
25 %
KRAS Mutation Analysis.

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

KRAS
Specificity
100 %
Genes
25 %
V-KI-RAS2 Kirsten rat sarcoma viral oncogene Homolog V-KI-RAS-2.

By Bioarray in Spain.

KRAS
Specificity
100 %
Genes
25 %
Lung and colon cancer.

By Bioarray in Spain.

KRAS
Specificity
100 %
Genes
25 %
Nevus Gene Set.

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

GNA11, GNAQ, PIK3CA, NRAS, KRAS, HRAS, FGFR3
Specificity
15 %
Genes
25 %
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
5 %
Genes
25 %
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
3 %
Genes
25 %
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
25 %
Circulo Breast.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Lung.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Ovarian.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Thyroid.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Hematological.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Pancreatic.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
Circulo Gastric.

By Circulogene Theranostics in United States.

KRAS
Specificity
100 %
Genes
25 %
LEUKEMIA, ACUTE MYELOGENOUS.

By Laboratorio de Genetica Clinica SL in Spain.

NPM1, KRAS
Specificity
50 %
Genes
25 %
LUNG CANCER, SQUAMOUS CELL.

By Laboratorio de Genetica Clinica SL in Spain.

KRAS
Specificity
100 %
Genes
25 %
PANCREATIC CARCINOMA.

By Laboratorio de Genetica Clinica SL in Spain.

KRAS
Specificity
100 %
Genes
25 %
BLADDER CANCER.

By Laboratorio de Genetica Clinica SL in Spain.

KRAS
Specificity
100 %
Genes
25 %
Cardiofaciocutaneous Syndrome Type 2, Sequencing KRAS Gene.

By Reference Laboratory Genetics in Spain.

KRAS
Specificity
100 %
Genes
25 %
Noonan Syndrome Type 3, Sequencing KRAS Gene.

By Reference Laboratory Genetics in Spain.

KRAS
Specificity
100 %
Genes
25 %
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
25 %
Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

NF1, CBL, PTPN11, NRAS, KRAS
Specificity
20 %
Genes
25 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CTLA4, FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8
Specificity
10 %
Genes
25 %

Alternate names

Cardiofaciocutaneous Syndrome 1; Cfc1 Is also known as cfc syndrome, cfcs;cfc syndrome.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 COLD-INDUCED SWEATING SYNDROME 2; CISS2 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP