Severe Cutaneous Adverse Reaction, Susceptibility To

Description

Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Cutaneous Adverse Reaction, Susceptibility To

  • Anemia
  • Visual impairment
  • Fever
  • Dysphagia
  • Renal insufficiency
  • Diarrhea
  • Fatigue
  • Thrombocytopenia
  • Recurrent respiratory infections
  • Erythema
And another 34 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 Severe Cutaneous Adverse Reaction, Susceptibility To have a estimated incidence of 0.36 per 100k worldwide.


Mendelian

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Severe Cutaneous Adverse Reaction, Susceptibility To Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leukemia, acute promyelocytic, PML/RARA type (sequence analysis of PML gene).

By CGC Genetics in Portugal.

PML
Specificity
100 %
Genes
3 %
PML/RARa fusion gene quantification.

By CGC Genetics in Portugal.

RARA, PML
Specificity
50 %
Genes
3 %
RT-PCR t(15;17)(PML/RARa).

By CGC Genetics in Portugal.

RARA, PML
Specificity
50 %
Genes
3 %
Detection by FISH of t(15;17) PML/RARA.

By CGC Genetics in Portugal.

RARA, PML
Specificity
50 %
Genes
3 %
Leukemia, acute promyelocytic form.

By Centogene AG - the Rare Disease Company in Germany.

PML
Specificity
100 %
Genes
3 %
Fluorescent in situ Hybridization - Hematopathology.

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

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

View the complete list with 9 more genes
Specificity
7 %
Genes
6 %
PML.

By Fulgent Genetics Fulgent Genetics in United States.

PML
Specificity
100 %
Genes
3 %
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
3 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

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

View the complete list with 571 more genes
Specificity
2 %
Genes
17 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

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

View the complete list with 571 more genes
Specificity
2 %
Genes
23 %
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
31 %
Aplastic anemia (sequence analysis of IFNG gene).

By CGC Genetics in Portugal.

IFNG
Specificity
100 %
Genes
3 %
Aplastic anemia.

By Centogene AG - the Rare Disease Company in Germany.

IFNG
Specificity
100 %
Genes
3 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

IFNG, LIG4, STXBP2, STX11, SRP72, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, CSF2RA , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
3 %
IFNG.

By Fulgent Genetics Fulgent Genetics in United States.

IFNG
Specificity
100 %
Genes
3 %
Immune Report Card.

By OmniSeq, Inc. in United States.

LAG3, ICOSLG, ENTPD1-AS1, GATA3-AS1, ADORA2A, TNFRSF18, TNFRSF14, TNFRSF9, HAVCR2, GZMB, IDO1, KLRD1, BTLA, VSIR, CXCL10, CXCR6, PDCD1LG2, CD38, CD68, CCR2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
3 %
Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

IFNG, TERT, TERC, PRF1, SBDS, NBN
Specificity
17 %
Genes
3 %
PSORS1C1.

By Fulgent Genetics Fulgent Genetics in United States.

PSORS1C1
Specificity
100 %
Genes
3 %
Ankylosing Spondylitis (HLAB27) Genotyping.

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

HLA-B
Specificity
100 %
Genes
3 %
Spondyloarthropathy, Susceptibility to.

By Laboratory of Genetics HUSLAB in Finland.

HLA-B
Specificity
100 %
Genes
3 %
HLA B27.

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

HLA-B
Specificity
100 %
Genes
3 %
B57 Testing.

By Immuno-Molecular Pathology University of Kentucky in United States.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B 1502 genotype.

By Molecular Diagnosis Centre National University Hospital in Singapore.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B27 typing PCR.

By Molecular Diagnosis Centre National University Hospital in Singapore.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B27.

By Department for blood group serology and transfusion medicine Medical University Graz in Austria.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B*57:01 typing.

By Quest Diagnostics Nichols Institute Chantilly in United States.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B*15:02.

By Genelex in United States.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B*58:01.

By Genelex in United States.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B*57:01.

By Genelex in United States.

HLA-B
Specificity
100 %
Genes
3 %
Mental Health DNA Insight.

By Pathway Genomics in United States.

UGT1A4, CYP1A2, HLA-B, SLC6A4, CYP2D6, CYP2C19
Specificity
17 %
Genes
3 %
Abacavir hypersensitivity.

By Genomic Engenharia Molecular in Brazil.

HLA-B
Specificity
100 %
Genes
3 %
HLA-B27.

By Genomic Engenharia Molecular in Brazil.

HLA-B
Specificity
100 %
Genes
3 %
OneOme RightMed comprehensive test.

By OneOme in United States.

HLA-A, NUDT15, CYP2C18, GRIK4, HTR2A, HTR2C, OPRM1, CYP2B6, CYP3A5, CYP4F2, CYP3A4, IFNL3, CYP1A2, HLA-B, CYP2C9, SLCO1B1, VKORC1, TPMT, DRD2, SLC6A4 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
6 %
Carbamazepine response.

By Xcode Life Xcode Life in India.

HLA-A, HLA-B, SCN2A
Specificity
67 %
Genes
6 %
Phenytoin response.

By Xcode Life Xcode Life in India.

HLA-B, SCN2A
Specificity
50 %
Genes
3 %
HLA-B*5701 genotyping.

By Molecular Genetics, Sunnybrook HSC Sunnybrook Health Sciences Centre in Canada.

HLA-B
Specificity
100 %
Genes
3 %
HLA-A*31:01.

By Genelex in United States.

HLA-A
Specificity
100 %
Genes
3 %
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
6 %
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, KLHL9, TTN, DYSF, CAV3, DNM2, NEB, VCP, CRYAB, GNE
Specificity
6 %
Genes
3 %
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc in United States.

UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, C9orf72, FIG4, SOD1, SQSTM1, VCP, OPTN
Specificity
6 %
Genes
3 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, FIG4, SQSTM1, VCP, OPTN
Specificity
7 %
Genes
3 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

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

GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, MME, PRPS1, IGHMBP2, DYNC1H1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
3 %
Neuromuscular Disorders Panel.

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

GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
3 %
Amyotrophic Lateral Sclerosis.

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

VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP, PRPH2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Comprehensive Neuromuscular Panel.

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

MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
3 %
Dementia.

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

SORL1, PRNP, TREM2, CSF1R, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, ALS2, C9orf72, APOE, MAPT, PSEN2, FIG4, GRN, VCP, OPTN, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Limb-Girdle Muscular Dystrophy.

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

COL6A1, COL6A3, COL6A2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
3 %
VCP sequencing.

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

VCP
Specificity
100 %
Genes
3 %
VCP Deletion/duplication analysis.

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

VCP
Specificity
100 %
Genes
3 %
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
3 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By Human Genetics Ruhr University in Germany.

VCP
Specificity
100 %
Genes
3 %
Body myopathy with Paget disease and frontotemporal dementia (sequence analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
3 %
Frontotemporal dementia (NGS panel for 13 genes).

By CGC Genetics in Portugal.

TUBA4A, HNRNPA1, HNRNPA2B1, CHCHD10, CSF1R, UBQLN2, TARDBP, CHMP2B, FUS, MAPT, GRN, VCP, PSEN1
Specificity
8 %
Genes
3 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TRPM7, TUBA4A, HNRNPA1, HNRNPA2B1, CHCHD10, ITM2B, SORL1, PRNP, TREM2, CSF1R, DNMT1, ATP13A2, UBQLN2, TARDBP, CHMP2B, FUS, SNCA, NOTCH3, APOE, MAPT , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Amyotrophic lateral sclerosis 14 (sequence analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
3 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
3 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
3 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ARHGEF28, CDH13, ANXA11, HNRNPA1, HNRNPA2B1, TREM2, TBK1, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, SETX, FUS, KIF5A, C9orf72, MAPT, PSEN2, SOD1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
3 %
Distal Hereditary Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, KLHL9, TTN, DYSF, CAV3, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
3 %
Valosin-Containing Protein-Related Disorders via the VCP Gene.

By PreventionGenetics PreventionGenetics in United States.

VCP
Specificity
100 %
Genes
3 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
3 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DARS, ARSI, USP8, WDR48, DSTYK, UNC80, AMPD2, ARL6IP1, IBA57, CCT5, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, DDHD1, TECPR2, DDHD2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
3 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DARS, ARSI, USP8, WDR48, ZFR, ATP2B4, DSTYK, UNC80, AMPD2, ARL6IP1, IBA57, CCT5, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
3 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

MYO18B, HNRNPA1, HNRNPA2B1, ALG14, PREPL, SYT2, COL13A1, MICU1, STIM1, ECEL1, MYH3, TNNT3, GMPPB, LMOD3, STAC3, POMK, TOR1AIP1, HNRNPDL, TNNI2, TNPO3 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
3 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ERBB4, ARHGEF28, TUBA4A, HNRNPA1, HNRNPA2B1, CHCHD10, TBK1, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, SETX, FUS, SIGMAR1, ALS2, MATR3, SPG11, FIG4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

ERBB4, ARHGEF28, TUBA4A, HNRNPA1, HNRNPA2B1, CHCHD10, TBK1, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, SETX, FUS, SIGMAR1, ALS2, MATR3, SPG11, FIG4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
Amyotrophic lateral sclerosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ERBB4, ARHGEF28, TUBA4A, HNRNPA1, HNRNPA2B1, CHCHD10, TBK1, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, SETX, FUS, SIGMAR1, ALS2, MATR3, SPG11, FIG4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
Distal Myopathy NGS panel.

By Connective Tissue Gene Tests in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, DNM2, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
3 %
Distal Myopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, DNM2, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
3 %
Distal Myopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, DNM2, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
3 %
Paget disease of bone and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ZNF687, HNRNPA1, HNRNPA2B1, TNFRSF11B, SQSTM1, VCP, TNFRSF11A
Specificity
15 %
Genes
3 %
Paget disease of bone and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ZNF687, HNRNPA1, HNRNPA2B1, TNFRSF11B, SQSTM1, VCP, TNFRSF11A
Specificity
15 %
Genes
3 %
Paget disease of bone and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ZNF687, HNRNPA1, HNRNPA2B1, TNFRSF11B, SQSTM1, VCP, TNFRSF11A
Specificity
15 %
Genes
3 %
Histological Myofibrillar Myopathy.

By MGZ Medical Genetics Center in Germany.

PLEC, FHL1, BAG3, LDB3, MYOT, FLNC, DES, TTN, LMNA, VCP, CRYAB, GNE
Specificity
9 %
Genes
3 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
3 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 137 more genes
Specificity
1 %
Genes
3 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
3 %
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies.

By MGZ Medical Genetics Center in Germany.

CHCHD10, SLC52A3, SLC52A2, BICD2, UBQLN2, VAPB, ANG, TARDBP, DCTN1, SETX, FUS, ALS2, BSCL2, MATR3, SPG11, FIG4, SOD1, GBE1, HEXA, SQSTM1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
3 %
Muscle Disease with Distal Myopathy.

By MGZ Medical Genetics Center in Germany.

MYH14, CHRNB1, CHRND, CHRNA1, AGRN, TCAP, BICD2, CCDC78, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
3 %
Muscle Disease with FSHD Phenocopies.

By MGZ Medical Genetics Center in Germany.

SMCHD1, FHL1, CAPN3, SGCA, VCP
Specificity
20 %
Genes
3 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
3 %
VCP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VCP
Specificity
100 %
Genes
3 %
FTD - ALS panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VAPB, ANG, TARDBP, CHMP2B, SETX, FUS, ALS2, MAPT, FIG4, NPC2, NPC1, SOD1, GRN, SMPD1, VCP
Specificity
7 %
Genes
3 %
Amyotrophic lateral sclerosis type 14.

By Centogene AG - the Rare Disease Company in Germany.

VCP
Specificity
100 %
Genes
3 %
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
12 %
ALS panel.

By Centogene AG - the Rare Disease Company in Germany.

VPS54, VEGFA, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPART, ATXN2, C9orf72, FIG4, NEFH, SOD1, VCP , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

ERBB4, HNRNPA1, UBQLN2, PFN1, VAPB, ANG, TARDBP, SETX, FUS, SIGMAR1, ALS2, MATR3, C9orf72, MAPT, SPG11, FIG4, SOD1, SQSTM1, PARK7, VCP , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Amyotrophic Lateral Sclerosis NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

ERBB4, HNRNPA1, UBQLN2, PFN1, VAPB, ANG, TARDBP, SETX, FUS, SIGMAR1, ALS2, MATR3, MAPT, SPG11, FIG4, SOD1, SQSTM1, PARK7, VCP, OPTN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

PRPH, ADD3, VPS54, KLC4, FLRT1, ARSI, ATP2B4, ARHGEF28, KANK1, HNRNPA1, HNRNPA2B1, AIMP1, FAM126A, STUB1, GRID2, SLC1A4, AMPD2, CCDC88C, ARL6IP1, IBA57 , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
3 %
Amyotrophic Lateral Sclerosis (ALS) Panel.

By CeGaT GmbH in Germany.

TAF15, UNC13A, ITPR2, DAO, EWSR1, HNRNPD, CHRM1, ELP3, FGGY, PRPH, SS18L1, VPS54, ERBB4, ARHGEF28, TUBA4A, HNRNPA1, HNRNPA2B1, PON1, PON2, CHCHD10 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
3 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

HNRNPA1, HNRNPA2B1, MSTN, VMA21, CHCHD10, HACD1, MICU1, ORAI1, STIM1, CASQ1, LMOD3, SPEG, STAC3, MTMR14, MYF6, KLHL41, COL12A1, DNA2, ACVR1, FKBP14 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
3 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

TOMM40, PRKAR1B, TUBA4A, HNRNPA1, HNRNPA2B1, CHCHD10, ITM2B, PRNP, TREM2, CSF1R, TBK1, UBQLN2, TARDBP, CHMP2B, DCTN1, FUS, SIGMAR1, MATR3, ATXN2, NOTCH3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
Dementia all Panel.

By CeGaT GmbH in Germany.

CD33, MARK4, TOMM40, PRKAR1B, ABCA7, TUBA4A, HNRNPA1, HNRNPA2B1, CHCHD10, ITM2B, VPS35, PRNP, TREM2, CSF1R, NLGN1, TBK1, UBQLN2, TARDBP, CHMP2B, DCTN1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
3 %
Single gene testing VCP.

By CeGaT GmbH in Germany.

VCP
Specificity
100 %
Genes
3 %
VCP - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

VCP
Specificity
100 %
Genes
3 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
3 %
Amyotrophic Lateral Sclerosis.

By Asper Biogene Asper Biogene LLC in Estonia.

ERBB4, TUBA4A, CHCHD10, TBK1, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, SETX, FUS, SIGMAR1, ALS2, SPART, MATR3, SPG11, FIG4, SOD1, SQSTM1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

MICU1, LMOD3, STAC3, MTMR14, MYF6, KLHL41, COL12A1, COL6A1, COL6A3, DNAJB6, MTM1, TNNT1, TPM2, CFL2, CNTN1, MEGF10, CCDC78, ACTA1, TPM3, KLHL40 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
3 %
Test for VCP-Related Frontotemporal Dementia.

By Secugen SL in Spain.

VCP
Specificity
100 %
Genes
3 %
Amyotrophic lateral sclerosis 14.

By Praxis fuer Humangenetik Wien in Austria.

VCP
Specificity
100 %
Genes
3 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By Praxis fuer Humangenetik Wien in Austria.

VCP
Specificity
100 %
Genes
3 %
Amyotrophic lateral sclerosis 14.

By MedGene in Slovakia.

VCP
Specificity
100 %
Genes
3 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By MedGene in Slovakia.

VCP
Specificity
100 %
Genes
3 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
3 %
Invitae Inclusion Body Myopathy Panel.

By Invitae in United States.

MYH2, TTN, VCP, GNE
Specificity
25 %
Genes
3 %
Invitae Distal Myopathy Panel.

By Invitae in United States.

DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, SQSTM1, VCP, CRYAB, GNE
Specificity
6 %
Genes
3 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
3 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

STIM1, LMOD3, STAC3, KLHL41, MYL2, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, KCNJ2, DNAJB6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
3 %
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

CHCHD10, PRNP, TBK1, TFG, UBQLN2, PFN1, VAPB, TARDBP, DCTN1, FUS, ALS2, SNCA, MAPT, PSEN2, SPG11, SOD1, GRN, VCP, OPTN, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Invitae Frontotemporal Dementia Panel.

By Invitae in United States.

CHCHD10, TBK1, UBQLN2, TARDBP, DCTN1, FUS, MAPT, GRN, VCP
Specificity
12 %
Genes
3 %
AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R..

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

VAPB, ANG, TARDBP, SETX, FUS, ALS2, SPART, FIG4, SOD1, VCP, OPTN
Specificity
10 %
Genes
3 %
Frontotemporal dementia.

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

UBQLN2, TARDBP, CHMP2B, FUS, SIGMAR1, MAPT, GRN, VCP
Specificity
13 %
Genes
3 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

UBAP1, PRKAR1B, PRPH, VPS54, ERBB4, ARHGEF28, HNRNPA1, HNRNPA2B1, PSENEN, ITM2B, IFT74, SORL1, PRNP, TREM2, CSF1R, SERPINI1, UBQLN2, PFN1, VAPB, ANG , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
3 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A1, COL6A3, COL6A2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
3 %
Amyotrophic Lateral Sclerosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PRPH, CHGB, ABCC2, ABCG5, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, ATXN2, C9orf72, FIG4, SOD1, ABCD1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
Distal Hereditary Myopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TCAP, FHL1, MATR3, LDB3, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, VCP, CRYAB, GNE
Specificity
8 %
Genes
3 %
VCP.

By Fulgent Genetics Fulgent Genetics in United States.

VCP
Specificity
100 %
Genes
3 %
PAGET-Complete.

By PentaCoreLab in Hungary.

CSF1, DCSTAMP, TNFRSF11B, TNFSF11, SQSTM1, VCP, TNFRSF11A, OPTN
Specificity
13 %
Genes
3 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
3 %
Dementia Panel.

By Blueprint Genetics in Finland.

ABCA7, TUBA4A, RNF216, SORL1, PRNP, TREM2, CSF1R, UBQLN2, TARDBP, CHMP2B, FUS, SIGMAR1, SNCA, APOE, MAPT, PSEN2, GRN, VCP, PSEN1, APP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
3 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 165 more genes
Specificity
1 %
Genes
3 %
Amyotrophic Lateral Sclerosis Panel.

By Blueprint Genetics in Finland.

TUBA4A, HNRNPA1, CHCHD10, SLC52A3, SLC52A2, UBQLN2, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, ALS2, SPART, WASHC5, BSCL2, KIF5A, SPAST, SPG11 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
3 %
Amyotrophic Lateral Sclerosis (VCP gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

VCP
Specificity
100 %
Genes
3 %
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

PRPH, CHCHD10, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, C9orf72, FIG4, NEFH, SOD1, SQSTM1, VCP
Specificity
7 %
Genes
3 %
AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PRPH, ERBB4, HNRNPA1, CHCHD10, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, MATR3, SPG11, FIG4, NEFH, SOD1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
3 %
DEMENTIA & ALZHEIMER: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ITM2B, PRNP, TREM2, CSF1R, TARDBP, CHMP2B, FUS, APOE, MAPT, PSEN2, GRN, VCP, PSEN1, APP
Specificity
8 %
Genes
3 %
INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA.

By Laboratorio de Genetica Clinica SL in Spain.

VCP
Specificity
100 %
Genes
3 %
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia , Sequencing VCPGene.

By Reference Laboratory Genetics in Spain.

VCP
Specificity
100 %
Genes
3 %
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

VAPB, ANG, TARDBP, SETX, FUS, ALS2, SPART, SPG11, FIG4, SOD1, VCP, OPTN
Specificity
9 %
Genes
3 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

SLC52A1, SLC52A3, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, ASAH1, IGHMBP2, DYNC1H1, SETX, SIGMAR1, ALS2, BSCL2, DES, INF2, UBA1, SMN2, GJB1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
3 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
3 %
Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

UBQLN2, TARDBP, CHMP2B, FUS, SIGMAR1, MAPT, GRN, VCP
Specificity
13 %
Genes
3 %
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VCP
Specificity
100 %
Genes
3 %
Inherited Cancer Panel.

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

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

View the complete list with 29 more genes
Specificity
3 %
Genes
3 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

SMARCB1, NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, MEN1, RB1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL
Specificity
6 %
Genes
3 %
Retinoblastoma.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

RB1
Specificity
100 %
Genes
3 %
Genetic testing in retinoblastoma.

By Eye Cancer Genetics Universitätsklinikum Essen in Germany.

RB1
Specificity
100 %
Genes
3 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

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

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

View the complete list with 27 more genes
Specificity
3 %
Genes
3 %
Retinoblastoma.

By Genetic Pathology SA Pathology in Australia.

RB1
Specificity
100 %
Genes
3 %
CancerNext-Expanded.

By Ambry Genetics in United States.

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

View the complete list with 44 more genes
Specificity
2 %
Genes
3 %
CustomNext: Cancer.

By Ambry Genetics in United States.

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

View the complete list with 48 more genes
Specificity
2 %
Genes
3 %
MelanomaNext.

By Ambry Genetics in United States.

BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
13 %
Genes
3 %
RB1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

RB1
Specificity
100 %
Genes
3 %
RB1. Complete sequencing.

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

RB1
Specificity
100 %
Genes
3 %
RB1. MLPA testing.

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

RB1
Specificity
100 %
Genes
3 %
Hereditary Melanoma Panel.

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

WRN, BAP1, TERT, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2, BRCA1
Specificity
10 %
Genes
3 %
CHOP Comprehensive Hereditary Cancer Panel.

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

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

View the complete list with 86 more genes
Specificity
2 %
Genes
6 %
Retinoblastoma (methylation and deletion/duplication analysis on RB1 gene).

By CGC Genetics in Portugal.

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma (deletion/duplication analysis of RB1).

By CGC Genetics in Portugal.

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma (sequence analysis of RB1 gene).

By CGC Genetics in Portugal.

RB1
Specificity
100 %
Genes
3 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

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

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

By CGC Genetics in Portugal.

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

View the complete list with 69 more genes
Specificity
2 %
Genes
3 %
Retinoblastoma.

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

RB1
Specificity
100 %
Genes
3 %
RB1 testing for Retinoblastoma.

By Impact Genetics Impact Genetics in Canada.

MYCN, RB1
Specificity
50 %
Genes
3 %
Retinoblastoma via the RB1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RB1
Specificity
100 %
Genes
3 %
Melanoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POT1, BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
10 %
Genes
3 %
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
3 %
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
6 %
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
6 %
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
3 %
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
3 %
Retinoblastoma.

By Centogene AG - the Rare Disease Company in Germany.

RB1
Specificity
100 %
Genes
3 %
RB1 Mutation Screening.

By Retinoblastoma Genetic Screening Unit Barts Health NHS Trust in United Kingdom.

RB1
Specificity
100 %
Genes
3 %
RB1 Linkage Analysis.

By Retinoblastoma Genetic Screening Unit Barts Health NHS Trust in United Kingdom.

RB1
Specificity
100 %
Genes
3 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 12 more genes
Specificity
4 %
Genes
3 %
Familial melanoma Panel.

By CeGaT GmbH in Germany.

POT1, BAP1, MITF, CDKN2A, CDK4, MC1R, RB1, PTEN
Specificity
13 %
Genes
3 %
Retinoblastoma.

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

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma, RB1.

By GGA - Galil Genetic Analysis in Israel.

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma, RB1.

By GGA - Galil Genetic Analysis in Israel.

RB1
Specificity
100 %
Genes
3 %
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
3 %
Retinoblastoma.

By Asper Biogene Asper Biogene LLC in Estonia.

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma, RB1 sequencing.

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

RB1
Specificity
100 %
Genes
3 %
RB1.

By Division Human Genetics Medical University Innsbruck in Austria.

RB1
Specificity
100 %
Genes
3 %
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
2 %
Genes
6 %
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
3 %
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
3 %
Invitae Melanoma Panel.

By Invitae in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
3 %
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
3 %
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
3 %
Invitae Retinoblastoma Test.

By Invitae in United States.

RB1
Specificity
100 %
Genes
3 %
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
3 %
Retinoblastoma: RB1 gene sequence analysis.

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

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma -RB1 gene deletions-duplications analysis (MLPA).

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

RB1
Specificity
100 %
Genes
3 %
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
3 %
Retinoblastoma: RB1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma: RB1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RB1
Specificity
100 %
Genes
3 %
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
3 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
3 %
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
3 %
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
6 %
RB1.

By Fulgent Genetics Fulgent Genetics in United States.

RB1
Specificity
100 %
Genes
3 %
Melanoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BAP1, MITF, CHEK2, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
3 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 104 more genes
Specificity
1 %
Genes
3 %
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
3 %
Onco microarray for ALL.

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

BTG1, EBF1, PDGFRB, ETV6, IKZF1, JAK2, PAX5, CDKN2A, RB1, TP53
Specificity
20 %
Genes
6 %
Hemato-oncology chromosomal microarray.

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

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

View the complete list with 72 more genes
Specificity
5 %
Genes
12 %
Retinoblastoma.

By Bioarray in Spain.

RB1
Specificity
100 %
Genes
3 %
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
6 %
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
6 %
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
6 %
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
3 %
Gynecologic Tumors Gene Set.

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

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

View the complete list with 30 more genes
Specificity
6 %
Genes
9 %
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
6 %
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
3 %
Genes
3 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
3 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
3 %
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
12 %
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
6 %
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
6 %
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
6 %
Circulo Pancreatic.

By Circulogene Theranostics in United States.

RB1
Specificity
100 %
Genes
3 %
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
9 %
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
6 %
RETINOBLASTOMA.

By Laboratorio de Genetica Clinica SL in Spain.

RB1
Specificity
100 %
Genes
3 %
RETINOBLASTOMA.

By Laboratorio de Genetica Clinica SL in Spain.

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma (RB1) Sanger sequencing and Del/Dup.

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

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma, Sequencing RB1 Gene.

By Reference Laboratory Genetics in Spain.

RB1
Specificity
100 %
Genes
3 %
Retinoblastoma, Deletions-Duplications (MLPA) RB1 Gene.

By Reference Laboratory Genetics in Spain.

RB1
Specificity
100 %
Genes
3 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 70 more genes
Specificity
2 %
Genes
3 %
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
3 %
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
3 %
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
3 %
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
3 %
Phosphorus Melanoma Panel.

By Phosphorus Diagnostics LLC in United States.

POT1, BAP1, MITF, CDKN2A, CDK4, RB1, TP53, PTEN, BRCA2
Specificity
12 %
Genes
3 %
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
3 %
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
3 %
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
12 %
Retinoblastoma: RB1 Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RB1
Specificity
100 %
Genes
3 %
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
3 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 25 more genes
Specificity
5 %
Genes
6 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 24 more genes
Specificity
3 %
Genes
3 %
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
6 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 8 more genes
Specificity
4 %
Genes
3 %
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
3 %
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
3 %
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
6 %
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
6 %
Retinoblastoma: RB1 Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RB1
Specificity
100 %
Genes
3 %
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
3 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel.

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

CTNNB1, EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PQBP1, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
3 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, TRAPPC9, CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
3 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC1A4, PPP1R15B, USP18, TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, TRAPPC9, CEP63, KNL1, CEP135, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
3 %
CTNNB1. Complete sequencing.

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

CTNNB1
Specificity
100 %
Genes
3 %
Colorectal cancer, somatic (sequence analysis of CTNNB1 gene).

By CGC Genetics in Portugal.

CTNNB1
Specificity
100 %
Genes
3 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CAPN5, ATOH7, VCAN, RCBTB1, KIF11, ZNF408, CTNNB1, ISPD, FZD4, TSPAN12, NDP, ATP6V0A2, COL2A1, LRP5
Specificity
8 %
Genes
3 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
3 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 90 more genes
Specificity
1 %
Genes
3 %
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
9 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

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

View the complete list with 25 more genes
Specificity
3 %
Genes
3 %
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
6 %
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
6 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

CTNNB1
Specificity
100 %
Genes
3 %
Ovarian cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

CTNNB1
Specificity
100 %
Genes
3 %
Hepatocellular carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

CTNNB1
Specificity
100 %
Genes
3 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

CTNNB1
Specificity
100 %
Genes
3 %
Arrhythmogenic cardiomyopathy.

By Health in Code in Spain.

PPP1R13L, PERP, PKP4, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, CTNNB1, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
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
9 %
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
3 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
3 %
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
3 %
CTNNB1.

By Fulgent Genetics Fulgent Genetics in United States.

CTNNB1
Specificity
100 %
Genes
3 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
3 %
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ATAD3A, DARS, RARS, IBA57, MARS2, COASY, AP4M1, AP4E1, AP4B1, AP4S1, DDHD1, DDHD2, CYP2U1, GBA2, B4GALNT1, C19orf12, HACE1, CAPN1, SLC16A2, CTNNB1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
3 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

CAPN5, P3H2, ATOH7, VCAN, COL18A1, CTC1, KIF11, ZNF408, CTNNB1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP , (...)

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

By Bioarray in Spain.

CTNNB1
Specificity
100 %
Genes
3 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

CTNNB1
Specificity
100 %
Genes
3 %
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
2 %
Genes
3 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 71 more genes
Specificity
2 %
Genes
3 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 11 more genes
Specificity
4 %
Genes
3 %
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
6 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 9 more genes
Specificity
4 %
Genes
3 %
MyeloidDx by NGS.

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

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

View the complete list with 33 more genes
Specificity
2 %
Genes
3 %
MyeloidDx by NGS.

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

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

View the complete list with 33 more genes
Specificity
2 %
Genes
3 %
IKZF1 Sequencing.

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

IKZF1
Specificity
100 %
Genes
3 %
IKZF1 Deletion/duplication analysis.

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

IKZF1
Specificity
100 %
Genes
3 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 3 more genes
Specificity
5 %
Genes
3 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 34 more genes
Specificity
2 %
Genes
3 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 11 more genes
Specificity
4 %
Genes
3 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL).

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, RTEL1, CEBPA, PAX5, GATA2, ANKRD26, TP53, RUNX1
Specificity
7 %
Genes
3 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 59 more genes
Specificity
2 %
Genes
3 %
Humoral dysfunction Del/Dup Panel.

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

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

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
Humoral dysfunction Seq Analysis.

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

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

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
Humoral dysfunction Seq + Del/Dup Panel.

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

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

View the complete list with 4 more genes
Specificity
5 %
Genes
3 %
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
3 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 34 more genes
Specificity
2 %
Genes
3 %
IKZF1.

By Fulgent Genetics Fulgent Genetics in United States.

IKZF1
Specificity
100 %
Genes
3 %
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
3 %
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
3 %
Genes
3 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 126 more genes
Specificity
1 %
Genes
3 %
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
3 %
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
1 %
Genes
3 %
Focus::Myeloid™ NGS Panel.

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

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

View the complete list with 34 more genes
Specificity
2 %
Genes
3 %
Focus::Myeloid™ NGS Panel.

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

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

View the complete list with 30 more genes
Specificity
2 %
Genes
3 %
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
6 %
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
6 %
Comprehensive Pulmonary Panel.

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

SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
3 %
Arterial Hypertension Panel.

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

BMPR2, ABCA3, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, ENG, SMAD4
Specificity
10 %
Genes
3 %
Pulmonary Arterial Hypertension Panel.

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

BMPR2, ABCA3, KCNA5, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, ENG, SMAD4
Specificity
10 %
Genes
3 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, LMNA, PPARG
Specificity
8 %
Genes
3 %
Congenital Generalized Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, CAV1, BSCL2, CAVIN1, FBN1
Specificity
17 %
Genes
3 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
3 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
3 %
Congenital Generalized Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, CAV1, BSCL2, CAVIN1, FBN1
Specificity
17 %
Genes
3 %
Partial Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, LMNA, PPARG
Specificity
8 %
Genes
3 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
3 %
Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication, Multigene.

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

BMPR2, CAV1, KCNK3, ACVRL1, ENG
Specificity
20 %
Genes
3 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes.

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

TEK, GLMN, BMPR2, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, SMAD4, PTEN
Specificity
8 %
Genes
3 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

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

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

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
Pulmonary Hypertension Seq + Del/Dup Panel.

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

EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, ENG, SMAD4, FOXF1
Specificity
8 %
Genes
3 %
Pulmonary Hypertension Seq Analysis.

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

EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, ENG, SMAD4, FOXF1
Specificity
8 %
Genes
3 %
Pulmonary Hypertension Del/Dup Panel.

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

EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, ENG, SMAD4, FOXF1
Specificity
8 %
Genes
3 %
Comprehensive Pulmonary-Vascular Seq Analysis.

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

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

View the complete list with 45 more genes
Specificity
2 %
Genes
3 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

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

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

View the complete list with 44 more genes
Specificity
2 %
Genes
3 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

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

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

View the complete list with 44 more genes
Specificity
2 %
Genes
3 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
3 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, WRN, KCNJ6, ERCC8, POLD1, ERCC6, ZMPSTE24, CAV1, LMNA, BLM, FBN1
Specificity
9 %
Genes
3 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
3 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, WRN, KCNJ6, ERCC8, POLD1, ERCC6, ZMPSTE24, CAV1, LMNA, BLM, FBN1
Specificity
9 %
Genes
3 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
3 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
3 %
CAV1-related pulmonary arterial hypertension (PAH) test.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

CAV1
Specificity
100 %
Genes
3 %
Congenital generalised lipodystrophy type 3.

By Exeter Molecular Genetics Laboratory in United Kingdom.

CAV1
Specificity
100 %
Genes
3 %
Lipodystrophy and Heritable Pulmonary Arterial Hypertension via CAV1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CAV1
Specificity
100 %
Genes
3 %
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGPAT2, CAV1, BSCL2, CAVIN1
Specificity
25 %
Genes
3 %
Pulmonary hypertension NGS panel.

By Connective Tissue Gene Tests in United States.

EIF2AK4, BMPR2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ENG, FOXF1
Specificity
12 %
Genes
3 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
3 %
Pulmonary hypertension Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EIF2AK4, BMPR2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ENG, FOXF1
Specificity
12 %
Genes
3 %
Pulmonary hypertension Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EIF2AK4, BMPR2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ENG, FOXF1
Specificity
12 %
Genes
3 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
3 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN
Specificity
6 %
Genes
3 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
3 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
3 %
Pulmonary Arterial Hypertension.

By Asper Biogene Asper Biogene LLC in Estonia.

BMPR2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ENG
Specificity
15 %
Genes
3 %
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
3 %
Pulmonary Hypertension Panel.

By Health in Code in Spain.

SMAD1, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, NOTCH3, ENG, SMAD4
Specificity
9 %
Genes
3 %
Mixed hyperlipidemias.

By Health in Code in Spain.

INSIG2, AGPAT2, PLIN1, CIDEC, INSR, AKT2, ZMPSTE24, CAV1, BSCL2, LMNA, LEP, CAVIN1, PPARG
Specificity
8 %
Genes
3 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
3 %
Pulmonary hypertension Panel.

By Health in Code in Spain.

TOPBP1, SMAD1, EIF2AK4, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, RASA1, NOTCH3, ENG, SMAD4, FOXF1
Specificity
7 %
Genes
3 %
Invitae Pulmonary Arterial Hypertension Panel.

By Invitae in United States.

BMPR2, CAV1, ACVRL1, ENG
Specificity
25 %
Genes
3 %
Heritable pulmonary arterial hypertension.

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

BMPR2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1
Specificity
17 %
Genes
3 %
Pulmonary Arterial Hypertension: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BMPR2, SMAD9, CAV1, GDF2, ACVRL1, RASA1, ENG, SMAD4
Specificity
13 %
Genes
3 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
3 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 86 more genes
Specificity
1 %
Genes
3 %
Lipodystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AGPAT2, CIDEC, TBC1D4, AKT2, ZMPSTE24, CAV1, BSCL2, LMNA, CAVIN1, PPARG
Specificity
10 %
Genes
3 %
Rett-Angelman Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRAPPC9, MED17, CAV1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
6 %
Genes
3 %
Pulmonary Hypertension NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BMPR2, SMAD9, CAV1, ACVRL1, ENG
Specificity
20 %
Genes
3 %
CAV1.

By Fulgent Genetics Fulgent Genetics in United States.

CAV1
Specificity
100 %
Genes
3 %
Hereditary hemorrhagic telangiectasia (HHT).

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

BMPR2, CAV1, GDF2, ACVRL1, RASA1, CCM2, KRIT1, ENG, SMAD4
Specificity
12 %
Genes
3 %
Pulmonary Artery Hypertension (PAH) Panel.

By Blueprint Genetics in Finland.

TBX4, EIF2AK4, BMPR2, KCNA5, CAV1, KCNK3, ACVRL1, RASA1, ENG, SMAD4, FOXF1, NFU1
Specificity
9 %
Genes
3 %
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
3 %
Congenital and Familial Lipodystrophy Panel.

By Blueprint Genetics in Finland.

AGPAT2, PLIN1, TBC1D4, LIPE, AKT2, ZMPSTE24, CAV1, BSCL2, LMNA, CAVIN1, PPARG
Specificity
10 %
Genes
3 %
Heritable Pulmonary Arterial Hypertension Type 3, Sequencing CAV1 Gene.

By Reference Laboratory Genetics in Spain.

CAV1
Specificity
100 %
Genes
3 %
Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

BMPR2, SMAD9, CAV1, ACVRL1, ENG
Specificity
20 %
Genes
3 %
Lipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

AGPAT2, PLIN1, CIDEC, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, PPARG
Specificity
10 %
Genes
3 %
PTGER3.

By Fulgent Genetics Fulgent Genetics in United States.

PTGER3
Specificity
100 %
Genes
3 %
Rubinstein-Taybi Syndrome - EP300 Sequencing.

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

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi Syndrome - EP300 Del/Dup Analysis.

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

EP300
Specificity
100 %
Genes
3 %
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ROR2, ESCO2, WNT5A, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21, HDAC8 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
3 %
EP300 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

EP300
Specificity
100 %
Genes
3 %
EP300 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

EP300
Specificity
100 %
Genes
3 %
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ROR2, ESCO2, WNT5A, AFF4, EP300, SMARCA2, ARID1A, SMARCB1, SMARCA4, SOX11, SMARCE1, ARID1B, ADNP, PHF6, ANKRD11, TBC1D24, NIPBL, SMC1A, SMC3, RAD21 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
3 %
EP300. Complete sequencing.

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

EP300
Specificity
100 %
Genes
3 %
Rubinstein Taybi Del/Dup Panel.

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

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein Taybi Seq + Del/Dup Panel.

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

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein Taybi Seq Analysis.

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

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein-Taybi Syndrome (deletion/duplication analysis of EP300 gene).

By CGC Genetics in Portugal.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi syndrome (sequence analysis of EP300 gene).

By CGC Genetics in Portugal.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi syndrome (sequence analysis of CREBBP and EP300 genes).

By CGC Genetics in Portugal.

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

SRCAP, EP300, CREBBP
Specificity
34 %
Genes
3 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SF3B4, TCF12, SRCAP, EFTUD2, EP300, TWIST1, POLR1D, TCOF1, POLR1C, FGFR1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, CREBBP, FGFR3, DHODH
Specificity
6 %
Genes
3 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 238 more genes
Specificity
1 %
Genes
3 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WDR26, KDM1A, TAF6, DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, CTCF, ESCO2, SRCAP, AFF4, EP300, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, SMARCE1, NOTCH1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
3 %
Rubinstein-Taybi Syndrome via the EP300 Gene.

By PreventionGenetics PreventionGenetics in United States.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein-Taybi syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein-Taybi syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein-Taybi syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EP300
Specificity
100 %
Genes
3 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

EP300
Specificity
100 %
Genes
3 %
Single gene testing EP300.

By CeGaT GmbH in Germany.

EP300
Specificity
100 %
Genes
3 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

TBX3, MEOX1, FGF9, SF3B4, TBCE, FAM111A, POC1A, LARP7, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, CEP63, CUL7, CCNQ, TBX15 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
3 %
Rubinstein-Taybi syndrome 2 (EP300) MLPA.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi syndrome 2 (EP300) MLPA.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi syndrome 2 (EP300).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EP300
Specificity
100 %
Genes
3 %
Congenital heart diseases Panel.

By Health in Code in Spain.

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

View the complete list with 56 more genes
Specificity
2 %
Genes
3 %
Rubinstein-Taybi Syndrome panel.

By Molecular Vision Laboratory in United States.

SRCAP, EP300, CREBBP
Specificity
34 %
Genes
3 %
Invitae Rubinstein-Taybi Syndrome Panel.

By Invitae in United States.

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein-Taybi Syndrome: EP300 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

EP300
Specificity
100 %
Genes
3 %
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
3 %
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
3 %
Rubenstein-Taybi Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EP300, CREBBP
Specificity
50 %
Genes
3 %
EP300.

By Fulgent Genetics Fulgent Genetics in United States.

EP300
Specificity
100 %
Genes
3 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
3 %
Facial Dysostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 6 more genes
Specificity
4 %
Genes
3 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 226 more genes
Specificity
1 %
Genes
3 %
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
3 %
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
3 %
RUBINSTEIN-TAYBI SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

EP300, CREBBP
Specificity
50 %
Genes
3 %
Rubinstein-Taybi syndrome.

By LifeLabs Genetics in Canada.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi Syndrome , Sequencing EP300 Gene.

By Reference Laboratory Genetics in Spain.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi Syndrome , Deletions-Duplications (MLPA) EP300 Gene.

By Reference Laboratory Genetics in Spain.

EP300
Specificity
100 %
Genes
3 %
Rubinstein-Taybi Syndrome, Panel Massive Sequencing (NGS) CREBBP, EP300 Genes.

By Reference Laboratory Genetics in Spain.

EP300, CREBBP
Specificity
50 %
Genes
3 %
UMAD1.

By Fulgent Genetics Fulgent Genetics in United States.

UMAD1
Specificity
100 %
Genes
3 %
CUL1.

By Fulgent Genetics Fulgent Genetics in United States.

CUL1
Specificity
100 %
Genes
3 %
IFNA2.

By Fulgent Genetics Fulgent Genetics in United States.

IFNA2
Specificity
100 %
Genes
3 %
ADAM22.

By Fulgent Genetics Fulgent Genetics in United States.

ADAM22
Specificity
100 %
Genes
3 %
PTGIS.

By Fulgent Genetics Fulgent Genetics in United States.

PTGIS
Specificity
100 %
Genes
3 %
MIF.

By Fulgent Genetics Fulgent Genetics in United States.

MIF
Specificity
100 %
Genes
3 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 484 more genes
Specificity
1 %
Genes
3 %
PARP1.

By Fulgent Genetics Fulgent Genetics in United States.

PARP1
Specificity
100 %
Genes
3 %
FBXO6.

By Fulgent Genetics Fulgent Genetics in United States.

FBXO6
Specificity
100 %
Genes
3 %
SLC22A23.

By Fulgent Genetics Fulgent Genetics in United States.

SLC22A23
Specificity
100 %
Genes
3 %
NUCB1.

By Fulgent Genetics Fulgent Genetics in United States.

NUCB1
Specificity
100 %
Genes
3 %
NOS2.

By Fulgent Genetics Fulgent Genetics in United States.

NOS2
Specificity
100 %
Genes
3 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

ADRA1A, CALCA, GRK4, ADD1, ADRB1, NOS2, STK39, AGTR1, ADRB2, ECE1, AGT, NOS3, REN, NPPA, NR3C2, ACE, GNB3, NEDD4L, AGTR2, CLCNKA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
3 %
PSMC5.

By Fulgent Genetics Fulgent Genetics in United States.

PSMC5
Specificity
100 %
Genes
3 %
POU5F1.

By Fulgent Genetics Fulgent Genetics in United States.

POU5F1
Specificity
100 %
Genes
3 %
ELMO1.

By Fulgent Genetics Fulgent Genetics in United States.

ELMO1
Specificity
100 %
Genes
3 %
DDX39B.

By Fulgent Genetics Fulgent Genetics in United States.

DDX39B
Specificity
100 %
Genes
3 %
Liddle syndrome.

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

NEDD4, STK39, OXSR1, NR3C2, NEDD4L, SCNN1B, SCNN1G
Specificity
15 %
Genes
3 %
NEDD4.

By Fulgent Genetics Fulgent Genetics in United States.

NEDD4
Specificity
100 %
Genes
3 %
RBX1.

By Fulgent Genetics Fulgent Genetics in United States.

RBX1
Specificity
100 %
Genes
3 %
DERL1.

By Fulgent Genetics Fulgent Genetics in United States.

DERL1
Specificity
100 %
Genes
3 %
COPS5.

By Fulgent Genetics Fulgent Genetics in United States.

COPS5
Specificity
100 %
Genes
3 %

Alternate names

Severe Cutaneous Adverse Reaction, Susceptibility To Is also known as ;dermatostomatitis, stevens johnson type.



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