Melanocytic Nevus Syndrome, Congenital; Cmns

Description

Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, {155600}), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (OMIM ), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012).Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Melanocytic Nevus Syndrome, Congenital; Cmns

  • Seizures
  • Pica
  • Hypertelorism
  • Failure to thrive
  • Milia
  • Neoplasm
  • Nevus
  • Hydrocephalus
  • Short nose
  • Long philtrum
And another 29 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 Melanocytic Nevus Syndrome, Congenital; Cmns have a estimated prevalence of 2.75 per 100k worldwide.


Mendelian

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Melanocytic Nevus Syndrome, Congenital; Cmns Recommended genes panels

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

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

NRAS
Specificity
100 %
Genes
34 %
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
7 %
Genes
67 %
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
3 %
Genes
67 %
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
9 %
Genes
67 %
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
2 %
Genes
67 %
Noonan syndrome 6 (NRAS).

By Center for Human Genetics, Inc in United States.

NRAS
Specificity
100 %
Genes
34 %
Noonan Syndrome 11-Gene Sequencing Panel.

By Center for Human Genetics, Inc in United States.

LZTR1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, KRAS, BRAF, RAF1
Specificity
10 %
Genes
34 %
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
10 %
Genes
67 %
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
34 %
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
2 %
Genes
67 %
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
17 %
Genes
67 %
NRAS Mutation Analysis.

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

NRAS
Specificity
100 %
Genes
34 %
MyeloidDx by NGS.

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

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

View the complete list with 33 more genes
Specificity
4 %
Genes
67 %
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
67 %
NRAS-Related Noonan syndrome.

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

NRAS
Specificity
100 %
Genes
34 %
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
15 %
Genes
67 %
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
34 %
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
34 %
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
34 %
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
34 %
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
20 %
Genes
67 %
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
16 %
Genes
67 %
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
17 %
Genes
67 %
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
15 %
Genes
67 %
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
14 %
Genes
67 %
Noonan Spectrum Disorders Panel.

By GeneDx in United States.

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
19 %
Genes
67 %
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
3 %
Genes
67 %
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
19 %
Genes
67 %
Autism/Intellectual Disability/Multiple Anomalies.

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

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

View the complete list with 69 more genes
Specificity
3 %
Genes
67 %
Lynch Syndrome Paired Testing.

By Ambry Genetics in United States.

NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
13 %
Genes
34 %
TumorNext-Lynch+ColoNext.

By Ambry Genetics in United States.

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

By Ambry Genetics in United States.

NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
13 %
Genes
34 %
TumorNext-Lynch+CancerNext.

By Ambry Genetics in United States.

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

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

By Ambry Genetics in United States.

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

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
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
6 %
Genes
67 %
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
19 %
Genes
67 %
NRAS. Complete sequencing.

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

NRAS
Specificity
100 %
Genes
34 %
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
17 %
Genes
67 %
Noonan Syndrome - NRAS Sequence Analysis.

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

NRAS
Specificity
100 %
Genes
34 %
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
17 %
Genes
67 %
NRAS-related Noonan Syndrome.

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

NRAS
Specificity
100 %
Genes
34 %
NRAS gene (sequence analysis).

By CGC Genetics in Portugal.

NRAS
Specificity
100 %
Genes
34 %
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
16 %
Genes
67 %
Noonan syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SOS1, PTPN11, NRAS, KRAS, RAF1
Specificity
20 %
Genes
34 %
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
14 %
Genes
67 %
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
14 %
Genes
67 %
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
10 %
Genes
67 %
Noonan Syndrome via the NRAS Gene.

By PreventionGenetics PreventionGenetics in United States.

NRAS
Specificity
100 %
Genes
34 %
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
2 %
Genes
67 %
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
34 %
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
3 %
Genes
67 %
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
5 %
Genes
67 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRKCD, CTLA4, FADD, LRBA, PIK3CD, ITK, CASP10, FASLG, XIAP, FAS, SH2D1A, MAGT1, NRAS, KRAS, STAT3, CASP8
Specificity
7 %
Genes
34 %
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
8 %
Genes
67 %
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
8 %
Genes
67 %
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
8 %
Genes
67 %
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
15 %
Genes
67 %
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
15 %
Genes
67 %
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
15 %
Genes
67 %
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
4 %
Genes
67 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

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

View the complete list with 847 more genes
Specificity
1 %
Genes
67 %
Noonan syndrome - different panels.

By Institute of Human Genetics Cologne University in Germany.

A2ML1, RRAS, RASA2, LZTR1, RIT1, SOS2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
8 %
Genes
34 %
Colorectal adenocarcinoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

PIK3CA, NRAS, KRAS, BRAF
Specificity
25 %
Genes
34 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

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

View the complete list with 25 more genes
Specificity
5 %
Genes
67 %
Melanoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

GNA11, GNAQ, KIT, NRAS, BRAF
Specificity
20 %
Genes
34 %
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
2 %
Genes
67 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 323 more genes
Specificity
1 %
Genes
67 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 322 more genes
Specificity
1 %
Genes
67 %
RASopathies.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
14 %
Genes
67 %
Noonan Syndrome.

By MGZ Medical Genetics Center in Germany.

RRAS, RASA2, CBL, SOS1, SHOC2, PTPN11, NRAS, KRAS, RAF1
Specificity
12 %
Genes
34 %
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
6 %
Genes
67 %
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
34 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 34 more genes
Specificity
4 %
Genes
67 %
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
67 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 42 more genes
Specificity
4 %
Genes
67 %
Epidermal nevus, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Noonan syndrome type 6.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Autoimmune lymphoproliferative syndrome type 4.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Epidermal nevus, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Melanocytic nevus syndrome, congenital, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Thyroid carcinoma, follicular, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Neurocutaneous melanosis, somatic.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
Colorectal cancer, hereditary.

By Centogene AG - the Rare Disease Company in Germany.

NRAS
Specificity
100 %
Genes
34 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 1185 more genes
Specificity
1 %
Genes
67 %
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
67 %
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
67 %
RASopathies Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
RASopathies Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
RASopathies Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
Noonan Syndrome.

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

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
15 %
Genes
34 %
NRAS.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NRAS
Specificity
100 %
Genes
34 %
NRAS.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NRAS
Specificity
100 %
Genes
34 %
Noonan Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

SPRED1, KAT6B, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
16 %
Genes
67 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

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

View the complete list with 193 more genes
Specificity
1 %
Genes
67 %
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
2 %
Genes
67 %
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
2 %
Genes
67 %
Rasopathies NGS Panel.

By Health in Code in Spain.

SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
17 %
Genes
67 %
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
6 %
Genes
67 %
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
3 %
Genes
67 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

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

View the complete list with 360 more genes
Specificity
1 %
Genes
67 %
Arrhythmia General Panel.

By Health in Code in Spain.

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

View the complete list with 198 more genes
Specificity
1 %
Genes
67 %
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
3 %
Genes
67 %
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
2 %
Genes
67 %
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
2 %
Genes
67 %
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
12 %
Genes
67 %
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
9 %
Genes
67 %
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
34 %
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
34 %
Noonan syndrome 6.

By Praxis fuer Humangenetik Wien in Austria.

NRAS
Specificity
100 %
Genes
34 %
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
11 %
Genes
67 %
NOONAN SYNDROME.

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

A2ML1, RRAS, RASA2, LZTR1, NF1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
7 %
Genes
34 %
Noonan syndrome 6.

By MedGene in Slovakia.

NRAS
Specificity
100 %
Genes
34 %
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
3 %
Genes
67 %
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
5 %
Genes
67 %
Invitae Noonan Syndrome Panel.

By Invitae in United States.

A2ML1, RRAS, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
8 %
Genes
34 %
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
12 %
Genes
67 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

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

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

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
Noonan Syndrome: NRAS Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NRAS
Specificity
100 %
Genes
34 %
Noonan Syndrome: NRAS Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NRAS
Specificity
100 %
Genes
34 %
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
17 %
Genes
67 %
Melanoma: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

WRN, GNAQ, PIK3CA, BAP1, KIT, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, BRAF, RB1, PTEN
Specificity
8 %
Genes
34 %
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
2 %
Genes
67 %
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
4 %
Genes
67 %
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
4 %
Genes
67 %
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
2 %
Genes
67 %
Noonan Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
19 %
Genes
67 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 323 more genes
Specificity
1 %
Genes
67 %
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
67 %
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
4 %
Genes
67 %
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
67 %
NRAS.

By Fulgent Genetics Fulgent Genetics in United States.

NRAS
Specificity
100 %
Genes
34 %
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
34 %
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
2 %
Genes
67 %
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
3 %
Genes
67 %
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
34 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 19 more genes
Specificity
6 %
Genes
67 %
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
3 %
Genes
67 %
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
2 %
Genes
67 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 219 more genes
Specificity
1 %
Genes
67 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 102 more genes
Specificity
2 %
Genes
67 %
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
2 %
Genes
67 %
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
10 %
Genes
67 %
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
1 %
Genes
67 %
Anti-EGFR antibody therapy response in metastatic colorectal Carcinoma.

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

NRAS, KRAS, BRAF
Specificity
34 %
Genes
34 %
Noonan Syndrome Panel.

By Insight Medical Genetics in United States.

CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
17 %
Genes
67 %
NRAS Mutation by Sequencing.

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

NRAS
Specificity
100 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

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

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

View the complete list with 34 more genes
Specificity
4 %
Genes
67 %
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
67 %
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
4 %
Genes
34 %
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
10 %
Genes
34 %
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
3 %
Genes
34 %
Focus::Oncomine™ NGS Panel.

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

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

View the complete list with 15 more genes
Specificity
6 %
Genes
67 %
Focus::CLL™ NGS Panel.

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

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

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Noonan syndrome type 6.

By Bioarray in Spain.

NRAS
Specificity
100 %
Genes
34 %
Solid Tumor Gene Set.

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

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

View the complete list with 102 more genes
Specificity
2 %
Genes
67 %
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
3 %
Genes
67 %
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
4 %
Genes
67 %
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
7 %
Genes
67 %
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
67 %
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
2 %
Genes
34 %
Melanoma Gene Set.

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

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

View the complete list with 18 more genes
Specificity
6 %
Genes
67 %
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
34 %
Genitourinary Tumors Gene Set.

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

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

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

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

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

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

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

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

View the complete list with 21 more genes
Specificity
5 %
Genes
67 %
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
67 %
Noonan Syndrome Panel.

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

CBL, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
12 %
Genes
34 %
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
19 %
Genes
67 %
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
34 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

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

View the complete list with 46 more genes
Specificity
2 %
Genes
34 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

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

View the complete list with 385 more genes
Specificity
1 %
Genes
67 %
Guardant360.

By Guardant Health in United States.

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

View the complete list with 53 more genes
Specificity
3 %
Genes
67 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

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

View the complete list with 32 more genes
Specificity
4 %
Genes
67 %
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
3 %
Genes
67 %
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
67 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
34 %
Circulo Lung.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
34 %
Circulo Thyroid.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
34 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
34 %
Circulo Hematological.

By Circulogene Theranostics in United States.

NRAS
Specificity
100 %
Genes
34 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

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

View the complete list with 295 more genes
Specificity
1 %
Genes
67 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

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

View the complete list with 571 more genes
Specificity
1 %
Genes
67 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

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

View the complete list with 124 more genes
Specificity
2 %
Genes
67 %
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE.

By Laboratorio de Genetica Clinica SL in Spain.

CASP10, FASLG, FAS, NRAS, CASP8
Specificity
20 %
Genes
34 %
NOONAN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1
Specificity
15 %
Genes
34 %
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
4 %
Genes
67 %
Noonan Syndrome Type 6 , Sequencing NRAS Gene.

By Reference Laboratory Genetics in Spain.

NRAS
Specificity
100 %
Genes
34 %
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
17 %
Genes
67 %
Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

NF1, CBL, PTPN11, NRAS, KRAS
Specificity
20 %
Genes
34 %
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
34 %
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
3 %
Genes
67 %
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
3 %
Genes
67 %
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
3 %
Genes
67 %
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
3 %
Genes
67 %
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
5 %
Genes
67 %
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
5 %
Genes
67 %
152 Integrated Advantage NGS Solid Tumor Panel.

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

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

View the complete list with 132 more genes
Specificity
2 %
Genes
67 %
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
3 %
Genes
34 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Melanoma: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 12 more genes
Specificity
7 %
Genes
67 %
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
67 %
HRAS Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

HRAS
Specificity
100 %
Genes
34 %
Lysosomal Storage Disease Panel.

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

DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
34 %
Costello Syndrome.

By Center for Human Genetics, Inc in United States.

KRAS, HRAS, BRAF
Specificity
34 %
Genes
34 %
Costello syndrome.

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

HRAS
Specificity
100 %
Genes
34 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG14, LRP4, PREPL, SYT2, HACD1, COL13A1, ORAI1, STIM1, GMPPB, LMOD3, SPEG, STAC3, POMK, HNRNPDL, TNPO3, MYF6, LIMS2, KLHL41, COL12A1, MYL2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
34 %
Congenital Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HACD1, LMOD3, SPEG, STAC3, MYF6, KLHL41, COL12A1, CHKB, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Congenital Myopathy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HACD1, LMOD3, SPEG, STAC3, MYF6, KLHL41, COL12A1, CHKB, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
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
34 %
HRAS Gene Sequencing.

By GeneDx in United States.

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome.

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

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

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

HRAS
Specificity
100 %
Genes
34 %
HRAS. Sequencing of the exon 2.

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

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome.

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

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome - HRAS Sequence Analysis.

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

HRAS
Specificity
100 %
Genes
34 %
CHOP Comprehensive Hereditary Cancer Panel.

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

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

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

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

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome (sequence analysis of HRAS gene).

By CGC Genetics in Portugal.

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome via the HRAS Gene.

By PreventionGenetics PreventionGenetics in United States.

HRAS
Specificity
100 %
Genes
34 %
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
34 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 80 more genes
Specificity
1 %
Genes
34 %
Costello syndrome.

By Centogene AG - the Rare Disease Company in Germany.

HRAS
Specificity
100 %
Genes
34 %
Nevus sebaceous, HRAS related, somatic.

By Centogene AG - the Rare Disease Company in Germany.

HRAS
Specificity
100 %
Genes
34 %
Bladder cancer, HRAS related, somatic.

By Centogene AG - the Rare Disease Company in Germany.

HRAS
Specificity
100 %
Genes
34 %
Thyroid carcinoma, follicular, HRAS related, somatic.

By Centogene AG - the Rare Disease Company in Germany.

HRAS
Specificity
100 %
Genes
34 %
Single gene testing HRAS.

By CeGaT GmbH in Germany.

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome (HRAS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome (HRAS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome (HRAS).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

HRAS
Specificity
100 %
Genes
34 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

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

View the complete list with 69 more genes
Specificity
2 %
Genes
34 %
HRAS gene sequencing.

By Health in Code in Spain.

HRAS
Specificity
100 %
Genes
34 %
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
34 %
Skeletal Myopathy Panel.

By Health in Code in Spain.

CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Skeletal myopathy Panel.

By Health in Code in Spain.

CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
34 %
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
34 %
Congenital myopathy with excess of muscle spindles.

By Praxis fuer Humangenetik Wien in Austria.

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome.

By Praxis fuer Humangenetik Wien in Austria.

HRAS
Specificity
100 %
Genes
34 %
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic.

By Praxis fuer Humangenetik Wien in Austria.

HRAS
Specificity
100 %
Genes
34 %
COSTELLO SYNDROME.

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

HRAS
Specificity
100 %
Genes
34 %
Congenital myopathy with excess of muscle spindles.

By MedGene in Slovakia.

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome.

By MedGene in Slovakia.

HRAS
Specificity
100 %
Genes
34 %
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic.

By MedGene in Slovakia.

HRAS
Specificity
100 %
Genes
34 %
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
34 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

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

View the complete list with 60 more genes
Specificity
2 %
Genes
34 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

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

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

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
34 %
Invitae Myelodysplastic Syndrome/Leukemia Panel.

By Invitae in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
34 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

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

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %
Invitae Costello Syndrome Test.

By Invitae in United States.

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome: HRAS gene sequence analysis.

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

HRAS
Specificity
100 %
Genes
34 %
Costello syndrome: HRAS gene sequence analysis (exon 2).

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

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome: HRAS Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome: HRAS Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HRAS
Specificity
100 %
Genes
34 %
Noonan Syndrome and Related Conditions Profile.

By Integrated Genetics Westborough Integrated Genetics in United States.

MAP2K2, SOS1, SHOC2, PTPN11, MAP2K1, KRAS, HRAS, BRAF, RAF1
Specificity
12 %
Genes
34 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 92 more genes
Specificity
2 %
Genes
67 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19 , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

HRAS
Specificity
100 %
Genes
34 %
Nervous System / Brain Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

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

By Fulgent Genetics Fulgent Genetics in United States.

TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
7 %
Genes
34 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 104 more genes
Specificity
2 %
Genes
67 %
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
34 %
Hemato-oncology chromosomal microarray.

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

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

View the complete list with 72 more genes
Specificity
2 %
Genes
34 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
34 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 42 more genes
Specificity
2 %
Genes
34 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
34 %
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
34 %
Costello syndrome.

By Bioarray in Spain.

HRAS
Specificity
100 %
Genes
34 %
Breast Tumors Gene Set.

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

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

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
HRAS Gene Sequencing and Deletion/Duplication Analysis.

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

HRAS
Specificity
100 %
Genes
34 %
Circulo Colorectal.

By Circulogene Theranostics in United States.

HRAS
Specificity
100 %
Genes
34 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

HRAS
Specificity
100 %
Genes
34 %
Circulo Thyroid.

By Circulogene Theranostics in United States.

HRAS
Specificity
100 %
Genes
34 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

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

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
COSTELLO SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome, Sequencing HRAS Gene.

By Reference Laboratory Genetics in Spain.

HRAS
Specificity
100 %
Genes
34 %
Costello Syndrome, Sequencing Exon 2 HRAS Gene.

By Reference Laboratory Genetics in Spain.

HRAS
Specificity
100 %
Genes
34 %
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
34 %
Costello syndrome.

By Labor Dr. Wisplinghoff in Germany.

HRAS
Specificity
100 %
Genes
34 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel.

By Phosphorus Diagnostics LLC in United States.

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

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

By Phosphorus Diagnostics LLC in United States.

TERT, TERC, DKC1, NF1, CEBPA, GATA2, NBN, ATM, TINF2, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM
Specificity
6 %
Genes
34 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

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

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

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 63 more genes
Specificity
2 %
Genes
34 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
Ocular Albinism and Hermansky Pudlak Panel.

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

LYST, BLOC1S6, LRMDA, SLC24A5, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, DTNBP1, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
6 %
Genes
34 %
Hereditary Melanoma Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WRN, POT1, ACD, POLE, BAP1, CDKN2A, CDK4, MC1R, TP53, BRCA2, BRCA1
Specificity
10 %
Genes
34 %
Low-risk Melanoma Susceptibility Gene.

By Service de Génétique Gustave Roussy in France.

MC1R
Specificity
100 %
Genes
34 %
Albinism (NGS panel for 12 genes).

By CGC Genetics in Portugal.

RAB27A, MYO5A, LYST, LRMDA, SLC24A5, MITF, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
9 %
Genes
34 %
Melanoma, cutaneous malignant 5 (sequence analysis of MC1R gene).

By CGC Genetics in Portugal.

MC1R
Specificity
100 %
Genes
34 %
UV sensitivity (MCR1 gene).

By CGC Genetics in Portugal.

MC1R
Specificity
100 %
Genes
34 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAB27A, MYO5A, LYST, LRMDA, SLC24A5, MITF, HPS6, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
8 %
Genes
34 %
Hypopigmentation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3D1, SLC38A8, MLPH, RAB27A, MYO5A, KITLG, LYST, BLOC1S6, LRMDA, SLC24A5, MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, AP3B1, HPS3, HPS4, HPS5 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

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

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
Familial Melanoma panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

POT1, BAP1, MITF, CDKN2A, CDK4, MC1R
Specificity
17 %
Genes
34 %
Albinism.

By Centogene AG - the Rare Disease Company in Germany.

RAB27A, MYO5A, LYST, MITF, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
10 %
Genes
34 %
Melanoma, cutaneous malignant.

By Centogene AG - the Rare Disease Company in Germany.

MC1R
Specificity
100 %
Genes
34 %
Familial melanoma Panel.

By CeGaT GmbH in Germany.

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

By CeGaT GmbH in Germany.

LYST, LRMDA, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
13 %
Genes
34 %
Albinism Panel.

By CeGaT GmbH in Germany.

LYST, LRMDA, SLC24A5, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
12 %
Genes
34 %
Single gene testing MC1R.

By CeGaT GmbH in Germany.

MC1R
Specificity
100 %
Genes
34 %
Albinism.

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

RAB27A, MYO5A, LYST, LRMDA, MITF, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
10 %
Genes
34 %
Albinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RAB27A, MYO5A, LYST, MITF, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
10 %
Genes
34 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

MC1R
Specificity
100 %
Genes
34 %
Albinism Panel.

By Blueprint Genetics in Finland.

SLC38A8, MLPH, RAB27A, MYO5A, LYST, BLOC1S6, LRMDA, SLC24A5, MITF, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, GPR143, TYR, MC1R , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
ALBINISM: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

RAB27A, MYO5A, LYST, LRMDA, SLC24A5, MITF, HPS6, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
8 %
Genes
34 %
MELANOMA.

By Laboratorio de Genetica Clinica SL in Spain.

MC1R
Specificity
100 %
Genes
34 %
Albinisim panel.

By LifeLabs Genetics in Canada.

RAB27A, MYO5A, LYST, LRMDA, MITF, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
10 %
Genes
34 %
Cutaneous Malignant Melanoma Type 5 , Sequencing MC1R Gene.

By Reference Laboratory Genetics in Spain.

MC1R
Specificity
100 %
Genes
34 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BAP1, TERT, MITF, CDKN2A, CDK4, MC1R, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
34 %
Albinism , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

RAB27A, MYO5A, LYST, LRMDA, SLC24A5, MITF, GPR143, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
9 %
Genes
34 %
Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

LRMDA, SLC24A5, TYR, MC1R, SLC45A2, OCA2, TYRP1
Specificity
15 %
Genes
34 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 123 more genes
Specificity
1 %
Genes
34 %

Alternate names

Melanocytic Nevus Syndrome, Congenital; Cmns Is also known as giant pigmented hairy nevus;gphn, giant congenital pigmented nevus, pigmented moles;congenital pigmented nevus; gmn; giant congenital melanocytic nevus; giant pigmented hairy nevus; lcmn.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY 32B; IMD32B MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 BARDET-BIEDL SYNDROME 20; BBS20 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 ATRANSFERRINEMIA

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