Trichorhinophalangeal Syndrome, Type Ii; Trps2

Description

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

Clinical Features

Top most frequent phenotypes and symptoms related to Trichorhinophalangeal Syndrome, Type Ii; Trps2

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Muscular hypotonia
And another 72 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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Trichorhinophalangeal Syndrome, Type Ii; Trps2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRPS1 mutation analysis.

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

TRPS1
Specificity
100 %
Genes
50 %
TRPS1. Complete sequencing.

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

TRPS1
Specificity
100 %
Genes
50 %
TRPS1. Detection of large deletions and/or duplications by MLPA.

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

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome].

By CGC Genetics in Portugal.

EXT1, TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal syndrome types 1 and 3 (deletion/duplication analysis of TRPS1 gene).

By CGC Genetics in Portugal.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal syndrome type I (sequence analysis of TRPS1 gene).

By CGC Genetics in Portugal.

TRPS1
Specificity
100 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TRPS1
Specificity
100 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Langer-Giedion syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

TRPS1
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Single gene testing TRPS1.

By CeGaT GmbH in Germany.

TRPS1
Specificity
100 %
Genes
50 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

FBN1, FGFR3, PRKAR1A, WDR35, ADAMTSL2, IFT140, IFT43, IFT122, WNT5A, ROR2, PDE4D, ZSWIM6, GPC6, TRPS1, GDF5, DDR2, NPR2, IHH, GSC
Specificity
6 %
Genes
50 %
Trichorhinophalangeal syndrome, type I.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal syndrome, type III.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
50 %
Triorhinophalangeal syndrome I.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
50 %
Triorhinophalangeal syndrome III.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
50 %
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
50 %
Trichorhinophalangeal syndrome, type I.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal syndrome, type III.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
50 %
Triorhinophalangeal syndrome I.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
50 %
Triorhinophalangeal syndrome III.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
50 %
Invitae Trichorhinophalangeal Syndrome Panel.

By Invitae in United States.

EXT1, TRPS1
Specificity
100 %
Genes
100 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
100 %
TRPS1.

By Fulgent Genetics Fulgent Genetics in United States.

TRPS1
Specificity
100 %
Genes
50 %
Onco microarray for MDS/AML.

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

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Trichorhinophalangeal syndrome type 1.

By Bioarray in Spain.

TRPS1
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
TRICHORHINOPHALANGEAL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal Syndrome Type III , Sequencing TRPS1 Gene.

By Reference Laboratory Genetics in Spain.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal Syndrome Type I , Sequencing TRPS1 Gene.

By Reference Laboratory Genetics in Spain.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal Syndrome Types I and III , Deletions-Duplications (MLPA) TRPS1 Gene.

By Reference Laboratory Genetics in Spain.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal Syndrome: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TRPS1
Specificity
100 %
Genes
50 %
Trichorhinophalangeal Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TRPS1
Specificity
100 %
Genes
50 %
Hereditary Multiple Osteochrondomas-HMO.

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

EXT1
Specificity
100 %
Genes
50 %
EXT1 Deletion/duplication analysis.

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

EXT1
Specificity
100 %
Genes
50 %
EXT1 Sequencing.

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

EXT1
Specificity
100 %
Genes
50 %
EXT1.

By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital in Belgium.

EXT1
Specificity
100 %
Genes
50 %
EXT1. MLPA testing.

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

EXT1
Specificity
100 %
Genes
50 %
EXT1. Complete sequencing.

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

EXT1
Specificity
100 %
Genes
50 %
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
50 %
Exostoses (sequence analysis of EXT1 gene).

By CGC Genetics in Portugal.

EXT1
Specificity
100 %
Genes
50 %
Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes).

By CGC Genetics in Portugal.

EXT2, EXT1
Specificity
50 %
Genes
50 %
Exostoses multiple (sequence analysis of EXT1 and EXT2 genes).

By CGC Genetics in Portugal.

EXT2, EXT1
Specificity
50 %
Genes
50 %
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
50 %
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
50 %
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EXT2, EXT1
Specificity
50 %
Genes
50 %
Hereditary Multiple Osteochondromas (HMO) via EXT1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EXT1
Specificity
100 %
Genes
50 %
Multiple exostoses NGS panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
50 %
Multiple exostoses Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
50 %
Multiple exostoses Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EXT2, EXT1
Specificity
50 %
Genes
50 %
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
50 %
Exostoses, multiple, type 1.

By Centogene AG - the Rare Disease Company in Germany.

EXT1
Specificity
100 %
Genes
50 %
Langer-Giedion syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EXT1
Specificity
100 %
Genes
50 %
Chondrosarcoma.

By Centogene AG - the Rare Disease Company in Germany.

EXT1
Specificity
100 %
Genes
50 %
Single gene testing EXT1.

By CeGaT GmbH in Germany.

EXT1
Specificity
100 %
Genes
50 %
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
50 %
Hereditary multiple osteochondromas, EXT1 sequencing.

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

EXT1
Specificity
100 %
Genes
50 %
EXT1 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

EXT1
Specificity
100 %
Genes
50 %
Invitae Hereditary Multiple Osteochondromas Panel.

By Invitae in United States.

EXT2, EXT1
Specificity
50 %
Genes
50 %
Osteochondromatosis type I and II: EXT1 and EXT2 genes sequence analysis.

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

EXT2, EXT1
Specificity
50 %
Genes
50 %
Osteochondromatosis type I: EXT1 gene deletions-duplications analysis (MLPA).

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

EXT1
Specificity
100 %
Genes
50 %
Osteochondromatosis type I: EXT1 gene sequence analysis.

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

EXT1
Specificity
100 %
Genes
50 %
Congenital disorder of O-linked glycosylation (CDG).

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

B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
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
50 %
Hereditary-Multiple-Osteochondromas.

By Fulgent Genetics Fulgent Genetics in United States.

EXT2, EXT1
Specificity
50 %
Genes
50 %
EXT1.

By Fulgent Genetics Fulgent Genetics in United States.

EXT1
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Exostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

PTPN11, EXT2, EXT1
Specificity
34 %
Genes
50 %
Multiple cartilaginous exostoses type 1.

By Bioarray in Spain.

EXT1
Specificity
100 %
Genes
50 %
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
50 %
OSTEOCHONDROMA.

By Laboratorio de Genetica Clinica SL in Spain.

EXT1
Specificity
100 %
Genes
50 %
MULTIPLE EXOSTOSES (MULTIPLE OSTEOCHONDROMAS).

By Laboratorio de Genetica Clinica SL in Spain.

EXT2, EXT1
Specificity
50 %
Genes
50 %
Osteochondromatosis Type 1 , Sequencing EXT1 Gene.

By Reference Laboratory Genetics in Spain.

EXT1
Specificity
100 %
Genes
50 %
Osteochondromatosis Type 1 , Deletions-Duplications (MLPA) EXT1 Gene.

By Reference Laboratory Genetics in Spain.

EXT1
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Hereditary Multiple Osteochondromas: gene deletion/duplication panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EXT2, EXT1
Specificity
50 %
Genes
50 %
Hereditary Multiple Osteochondromas: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

EXT2, EXT1
Specificity
50 %
Genes
50 %
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
50 %

Alternate names

Trichorhinophalangeal Syndrome, Type Ii; Trps2 Is also known as langer-giedion syndrome;lgs, chromosome 8q24.1 deletion syndrome;deletion 8q24.1; langer-giedion syndrome; monosomy 8q24.1.


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