Chromosome 13q14 Deletion Syndrome

Description

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 13q14 Deletion Syndrome

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Micrognathia
  • Muscular hypotonia
And another 66 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Chromosome 13q14 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Inherited Cancer Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, RB1, MEN1, ALK, NBN, PTCH1, PHOX2B, NF2, SUFU, NF1, SMARCB1
Specificity
6 %
Genes
100 %
Retinoblastoma.

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

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

By Eye Cancer Genetics Universitätsklinikum Essen in Germany.

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

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Retinoblastoma.

By Genetic Pathology SA Pathology in Australia.

RB1
Specificity
100 %
Genes
100 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
MelanomaNext.

By Ambry Genetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1
Specificity
13 %
Genes
100 %
RB1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

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

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

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

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

RB1
Specificity
100 %
Genes
100 %
Hereditary Melanoma Panel.

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

BRCA1, BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, TERT, BAP1, WRN
Specificity
10 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Retinoblastoma (methylation and deletion/duplication analysis on RB1 gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, MEN1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Retinoblastoma.

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

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

By Impact Genetics Impact Genetics in Canada.

RB1, MYCN
Specificity
50 %
Genes
100 %
Retinoblastoma via the RB1 Gene.

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, CHEK2, MITF, BAP1, POT1
Specificity
10 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Retinoblastoma.

By Centogene AG - the Rare Disease Company in Germany.

RB1
Specificity
100 %
Genes
100 %
RB1 Mutation Screening.

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

RB1
Specificity
100 %
Genes
100 %
RB1 Linkage Analysis.

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

RB1
Specificity
100 %
Genes
100 %
Fluorescent in situ Hybridization - Hematopathology.

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

RUNX1, TP53, RB1, ATM, CDKN2A, FGFR1, KMT2A, IGH, JAK2, ABL1, PDGFRA, ETV6, BCR, RUNX1T1, PDGFRB, BCL2, PML, CBFB, RARA, TCF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

PTEN, RECQL4, TP53, RB1, RET, SDHC, FH, SDHB, BLM, TSC2, TSC1, NBN, NF2, CDKN2A, SDHD, MET, CDC73, NF1, LZTR1, SPRED1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Familial melanoma Panel.

By CeGaT GmbH in Germany.

PTEN, RB1, MC1R, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
13 %
Genes
100 %
Retinoblastoma.

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

RB1
Specificity
100 %
Genes
100 %
Retinoblastoma, RB1.

By GGA - Galil Genetic Analysis in Israel.

RB1
Specificity
100 %
Genes
100 %
Retinoblastoma, RB1.

By GGA - Galil Genetic Analysis in Israel.

RB1
Specificity
100 %
Genes
100 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Retinoblastoma.

By Asper Biogene Asper Biogene LLC in Estonia.

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

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

RB1
Specificity
100 %
Genes
100 %
RB1.

By Division Human Genetics Medical University Innsbruck in Austria.

RB1
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Invitae Sarcoma Panel.

By Invitae in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Invitae Melanoma Panel.

By Invitae in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
12 %
Genes
100 %
Invitae Nervous System/Brain Cancer Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Invitae Pediatric Nervous System/Brain Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, MEN1, HRAS, TSC2, TSC1, ALK, PTCH1, PHOX2B, NF2, SUFU, PRKAR1A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Invitae Retinoblastoma Test.

By Invitae in United States.

RB1
Specificity
100 %
Genes
100 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Retinoblastoma: RB1 gene sequence analysis.

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

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

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

RB1
Specificity
100 %
Genes
100 %
ONCOLOGY, PANEL.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Retinoblastoma: RB1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RB1
Specificity
100 %
Genes
100 %
Melanoma: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RB1, BRAF, KRAS, MAP2K1, NRAS, CDK4, CDKN2A, KIT, BAP1, PIK3CA, GNAQ, WRN
Specificity
8 %
Genes
100 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
100 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, RB1, MC1R, TYR, CDK4, CDKN2A, ERCC3, MITF, TERT, WRN
Specificity
8 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
RB1.

By Fulgent Genetics Fulgent Genetics in United States.

RB1
Specificity
100 %
Genes
100 %
Melanoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, CHEK2, MITF, BAP1
Specificity
12 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Sarcoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHC, FH, SDHB, SDHA, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Onco microarray for ALL.

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

TP53, RB1, CDKN2A, PAX5, JAK2, IKZF1, ETV6, PDGFRB, EBF1, BTG1
Specificity
10 %
Genes
100 %
Hemato-oncology chromosomal microarray.

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

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Retinoblastoma.

By Bioarray in Spain.

RB1
Specificity
100 %
Genes
100 %
Solid Tumor Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
CNS Tumor Gene Set.

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

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Melanoma Gene Set.

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

PTEN, TP53, RB1, RET, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, CDKN2A, MET, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Breast Tumors Gene Set.

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

BRCA1, BRCA2, PTEN, RUNX1, TP53, RB1, RET, IDH2, BRAF, HRAS, KRAS, MAP2K1, FGFR2, MAP2K2, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Gynecologic Tumors Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, RB1, BCOR, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ATM, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Head & Neck Tumors Gene Set.

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

BRCA1, BRCA2, APC, PTEN, TP53, RB1, HRAS, KRAS, NRAS, NSD1, ATM, CDKN2A, SMAD4, NF1, KMT2D, MTOR, NOTCH1, TGFBR2, KDM6A, EP300 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Thoracic Tumors Gene Set.

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

TP53, RB1, RET, BRAF, HRAS, KRAS, NRAS, RIT1, TSC2, TSC1, ALK, ATM, STK11, CDKN2A, MET, NTRK1, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Circulo Pancreatic.

By Circulogene Theranostics in United States.

RB1
Specificity
100 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
RETINOBLASTOMA.

By Laboratorio de Genetica Clinica SL in Spain.

RB1
Specificity
100 %
Genes
100 %
RETINOBLASTOMA.

By Laboratorio de Genetica Clinica SL in Spain.

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

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes.

By Reference Laboratory Genetics in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, TP53, RB1, SDHAF2, SDHC, FH, SDHB, BLM, HRAS, NBN, PTCH1, SUFU, CDKN1C, SDHD , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, PTEN, TP53, RB1, MC1R, CDK4, CDKN2A, MITF, TERT, BAP1
Specificity
10 %
Genes
100 %
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, PTEN, TP53, RB1, IDH2, PRKN, BRAF, LGI1, PIK3CA, EGFR, IDH1, ERBB2
Specificity
9 %
Genes
100 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, RB1, SDHAF2, RET, SDHC, SDHB, TMEM127, MEN1, SDHA, HRAS, TSC2, TSC1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Phosphorus Melanoma Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
12 %
Genes
100 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

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

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

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

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Retinoblastoma: RB1 Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RB1
Specificity
100 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, PTEN, TP53, RB1, RET, SEPT9, FGFR2, ATM, CDH1, CDKN2A, FGFR1, GATA3, NEK2, ERBB3, EP300, BAP1, PIK3CA, EGFR, AKT1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, MLH1, PTEN, TP53, RB1, RET, SOX2, BRAF, KRAS, FGFR2, ALK, ATM, STK11, CDKN2A, MET, SMAD4, PKHD1, NF1, FGFR1, KMT2D , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, MSH2, MLH1, PTEN, TP53, RB1, CUBN, BRAF, KRAS, NRAS, CDKN2A, NF1, CTNNB1, ARID1A, KIT, PIK3CA, EGFR, PDGFRA, CBLC , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, PTEN, TP53, RB1, ZFHX3, AR, CDKN2A, KMT2D, MED12, AKAP9, CDKN1B, PIK3CA, TBX20, SCN11A, CDK12, MYC, GLI1, KLF6, NIPA2, NKX3-1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Melanoma: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, PTEN, TP53, RB1, NRAS, CDK4, CDKN2A, KIT, MGMT, BAP1, WRN
Specificity
10 %
Genes
100 %
Melanoma: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA2, PTEN, TP53, RB1, BRAF, NRAS, CDK4, CDKN2A, KIT, BAP1, WRN
Specificity
10 %
Genes
100 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, PTEN, TP53, WT1, RB1, RET, IDH2, BRAF, HRAS, KRAS, NRAS, FGFR2, MAP2K2, ATM, PTCH1, STK11, CDKN2A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Retinoblastoma: RB1 Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RB1
Specificity
100 %
Genes
100 %

Alternate names

Chromosome 13q14 Deletion Syndrome Is also known as chromosome 13q deletion syndrome;del(13)(q14); deletion 13q14.



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