Crouzon Syndrome With Acanthosis Nigricans; Can

Description

Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (OMIM ), which is caused by mutation in the FGFR2 gene (OMIM ). Cohen (1999) argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different.

Clinical Features

Top most frequent phenotypes and symptoms related to Crouzon Syndrome With Acanthosis Nigricans; Can

  • Short stature
  • Pica
  • Hypertelorism
  • Strabismus
  • Failure to thrive
  • Ptosis
  • Cleft palate
  • Visual impairment
  • Nevus
  • Feeding difficulties
And another 54 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Crouzon Syndrome With Acanthosis Nigricans; Can have a estimated birth prevalence of 0.1 per 100k in Europe.


Mendelian

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Crouzon Syndrome With Acanthosis Nigricans; Can Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Achondroplasia Mutation Panel.

By Baylor Miraca Genetics Laboratories in United States.

FGFR3
Specificity
100 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
100 %
Non-immune Hydrops Panel.

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

PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
NGS Skeletal Dysplasia Panel.

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

SOX9, COMP, FLNA, HSPG2, TRPV4, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1
Specificity
10 %
Genes
100 %
FGFR3-related disorders.

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

FGFR3
Specificity
100 %
Genes
100 %
LADD Syndrome, FGFR3.

By Center for Human Genetics, Inc in United States.

FGFR3
Specificity
100 %
Genes
100 %
Skeletal Dysplasia.

By Molecular Pathology Laboratory Ohio State University in United States.

FGFR3
Specificity
100 %
Genes
100 %
Skeletal Dysplasia.

By Molecular Pathology Laboratory Ohio State University in United States.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 Related Disorders Tier 1 (includes Thanatophoric Dysplasias, Types 1 & 2, Achondroplasia, Hypochondroplasia, SADDAN, Crouzon, Muenke).

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 Related Disorders, Sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 Related Disorders, Del-Dup Targeted Exonic Array.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 Muenke Syndrome (P250R).

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 Crouzon Syndrome (A391E).

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 Saddan (K650M).

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

FGFR3
Specificity
100 %
Genes
100 %
Test for Hypochondroplasia.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Test for FGFR3-Related Craniosynostosis.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Test for Achondroplasia.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Test for Thanatophoric Dysplasia.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Saethre-Chotzen Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

TWIST1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Pfeiffer Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Hypochondroplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Non-Syndromic Coronal Craniosynostosis.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR2, FGFR3
Specificity
50 %
Genes
100 %
Crouzon Syndrome with Acanthosis Nigricans.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Jackson-Weiss Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR2, FGFR3
Specificity
50 %
Genes
100 %
Crouzon Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FGFR2, FGFR3
Specificity
50 %
Genes
100 %
Achondroplasia.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Muenke Syndrome - FGFR3 Gene (PRO250ARG).

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Crouzon Syndrome with Acanthosis Nigricans.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FGFR3
Specificity
100 %
Genes
100 %
Craniodysmorphology Screen (Targeted FGFR1,2, and 3).

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Hearing Loss Panel.

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

MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Craniosynostosis.

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

IFT122, IL11RA, IFT43, MASP1, ASXL1, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
FGFR-Related Disorders.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

FGFR3
Specificity
100 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Thanatophoric Dysplasia I/II, Fetal.

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

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia I/II.

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

FGFR3
Specificity
100 %
Genes
100 %
Hypocondroplasia.

By GENE Núcleo de Genética Médica de Minas Gerais in Brazil.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By GENE Núcleo de Genética Médica de Minas Gerais in Brazil.

FGFR3
Specificity
100 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

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

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

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

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

TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, ASXL1, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
FGFR3. Detection of the mutation p.Ala391Glu.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Complete sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Detection of the mutations p.Gly375Cys (c.1123G>T), p.Gly380Arg (c.1138G>A and c.1138G>C) by sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Detection of the mutation p.Pro250Arg by sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS.

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

SOX9, SLC26A2, FGFR3, CRTAP, COL1A2, COL1A1, COL2A1, ALPL
Specificity
13 %
Genes
100 %
FGFR3. Detection of the mutation p.Pro250Arg by sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Sequencing of the exons 13 to 15.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Complete sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Sequencing of the exons 9 and 10.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Complete sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3. Detection of the mutations p.Arg248Cys, p.Ser249Cys, p.Gly370Cys, p.Ser371Cys, p.Tyr373Cys, p.Lys650Gln and 807codon by sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia Hypochondroplasia.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia type I and II.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Muenke Syndrome.

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

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
Coronal Synostosis - FGFR3 Sequence Analysis for p.Pro250Arg.

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

FGFR3
Specificity
100 %
Genes
100 %
Saethre-Chotzen Syndrome - TWIST Sequence Analysis.

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

TWIST1, FGFR3
Specificity
50 %
Genes
100 %
Craniosynostosis Next Generation Sequencing Panel.

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

TWIST1, FGFR1, FGFR2, FGFR3
Specificity
25 %
Genes
100 %
Craniosynostosis Panel.

By Molecular Genetics Laboratory Children's Mercy Hospital and Clinics in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Achondroplasia (sequence analysis of exon 9 of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
FGFR-Related Craniosynostosis Syndromes.

By CGC Genetics in Portugal.

FGFR2, FGFR3
Specificity
50 %
Genes
100 %
Thanatophoric dysplasia.

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia (sequence analysis of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia (sequence analysis of exons 3, 7, 8, 9, 12 and 14 of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Crouzon Syndrome with Acanthosis Nigricans (sequence analysis of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia (sequence analysis of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Lacrimo-Auriculo-Dento-Digital Syndrome (sequence analysis of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Muenke syndrome (Pro250Arg mutation on FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia (sequence analysis of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia (sequence analysis of exons 7, 10, 15 and 19 of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 4 genes).

By CGC Genetics in Portugal.

TWIST1, FGFR1, FGFR2, FGFR3
Specificity
25 %
Genes
100 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Thanatophoric dysplasia (sequence analysis of FGFR3 gene).

By CGC Genetics in Portugal.

FGFR3
Specificity
100 %
Genes
100 %
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes).

By CGC Genetics in Portugal.

ALX3, ALX1, EFNB1, ALX4, TWIST1, MSX2, FGFR1, FGFR2, RUNX2, FGFR3
Specificity
10 %
Genes
100 %
Achondroplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3-Related Craniosynostosis, FGFR3-associated coronal synostosis.

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

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia (TD) via the FGFR3 Gene.

By PreventionGenetics PreventionGenetics in United States.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia via the FGFR3 Gene.

By PreventionGenetics PreventionGenetics in United States.

FGFR3
Specificity
100 %
Genes
100 %
Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
100 %
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
100 %
FGFR3-Related Disorders via the FGFR3 Gene.

By PreventionGenetics PreventionGenetics in United States.

FGFR3
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAPSS2, WDR34, WDR60, NEK1, DYNC2H1, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, SOX9, WDR35, SLC26A2, FGFR2, FGFR3
Specificity
6 %
Genes
100 %
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
100 %
Achondroplasia via the FGFR3 Gene, Exon 10.

By PreventionGenetics PreventionGenetics in United States.

FGFR3
Specificity
100 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Craniosynostosis core NGS panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
100 %
Craniosynostosis core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
100 %
Craniosynostosis core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
100 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
10 %
Genes
100 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests in United States.

INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
10 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
10 %
Genes
100 %
Thanatophoric dysplasia, type I / II Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia / Hypochondroplasia Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia, type I / II.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Camptodactyly, tall stature, and hearing loss syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia / Hypochondroplasia Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Camptodactyly, tall stature, and hearing loss syndrome.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Camptodactyly, tall stature, and hearing loss syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia / Hypochondroplasia.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia, type I / II Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3-related craniosynostosis.

By Institute of Human Genetics Cologne University in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Camptodactyly, tall stature, and hearing loss syndrome.

By Institute of Human Genetics Cologne University in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Institute of Human Genetics Cologne University in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Institute of Human Genetics Cologne University in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia.

By Institute of Human Genetics Cologne University in Germany.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3-related lacrimo-auriculo-dento-digital syndrome.

By Institute of Human Genetics Cologne University in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

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

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Achondroplasia.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia.

By MGZ Medical Genetics Center in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By MGZ Medical Genetics Center in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Malformations of Cortical Development.

By MGZ Medical Genetics Center in Germany.

DSC2, JUP, DSG2, TGFB3, TRDN, RYR2, PKP2, EFHC1, TMEM43, DES, FGFR3, DSP
Specificity
9 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
FGFR3-Related Craniosynostosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Labor Molekulargenetik, Abteilung Medizinische Genetik University Hospital Basel in Switzerland.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 related disorders.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By GeneTech ATS GeneTech Private Limited in India.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia.

By GeneTech ATS GeneTech Private Limited in India.

FGFR3
Specificity
100 %
Genes
100 %
Skeletal Dysplasia Panel.

By GeneTech ATS GeneTech Private Limited in India.

FGFR3
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Bladder cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Nevus, epidermal, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Cervical cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Spermatocytic seminoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FGFR3
Specificity
100 %
Genes
100 %
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
100 %
Crouzon syndrome with acanthosis nigricans.

By Centogene AG - the Rare Disease Company in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Centogene AG - the Rare Disease Company in Germany.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3-related craniosynostosis.

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

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia common mutation.

By Medical Genetics Institute Shaare Zedek Medical Center in Israel.

FGFR3
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

CYP26C1, NECTIN4, NECTIN1, BANF1, LIPH, APCDD1, SNRPE, KRT85, HOXC13, KCTD1, MSX1, KRT74, LPAR6, DLX3, TWIST2, HR, ANTXR1, TRPS1, EDARADD, DSG4 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Single gene testing FGFR3.

By CeGaT GmbH in Germany.

FGFR3
Specificity
100 %
Genes
100 %
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
100 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

GSC, IHH, NPR2, DDR2, GDF5, TRPS1, GPC6, ZSWIM6, PDE4D, ROR2, WNT5A, IFT122, IFT43, IFT140, ADAMTSL2, WDR35, PRKAR1A, FGFR3, FBN1
Specificity
6 %
Genes
100 %
Metaphyseal dysplasia Panel.

By CeGaT GmbH in Germany.

MMP9, MMP13, PTH1R, SBDS, RUNX2, RMRP, COL10A1, FGFR3
Specificity
13 %
Genes
100 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

TCF12, ERF, MEGF8, FREM1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, SKI, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
5 %
Genes
100 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Hypochondroplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia (FGFR3).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia (FGFR3).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3-related craniosynostosis (Muenke syndrome, FGFR3 p.Pro250Arg).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN, FGFR3).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Crouzon Syndrome with Acanthosis Nigricans (FGFR3).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Skeletal Dysplasia.

By Asper Biogene Asper Biogene LLC in Estonia.

TRIP11, ROR2, ESCO2, WNT5A, SOX9, SLC26A2, FGFR2, FGFR3, COL2A1, ALPL
Specificity
10 %
Genes
100 %
Craniosynostosis.

By Asper Biogene Asper Biogene LLC in Estonia.

IL11RA, TWIST1, MSX2, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
15 %
Genes
100 %
Skeletal Ciliopathies.

By Asper Biogene Asper Biogene LLC in Estonia.

DYNC2LI1, TCTEX1D2, IFT52, WDR34, WDR60, NEK1, DYNC2H1, CSPP1, CEP120, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, IFT43, TTC21B, WDR19, IFT140, COMP , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
FGFR3 sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3, Pro250Arg mutation.

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

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3-Related Craniosynostosis.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Molecular and Cytogenetic Diagnostic Laboratories Genetics Center in United States.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Praxis fuer Humangenetik Wien in Austria.

FGFR3
Specificity
100 %
Genes
100 %
Muenke syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 Targeted Mutation Analysis.

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

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 gene Sequencing.

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

FGFR3
Specificity
100 %
Genes
100 %
FGFR3.

By Division Human Genetics Medical University Innsbruck in Austria.

FGFR3
Specificity
100 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Hypochondroplasia.

By MedGene in Slovakia.

FGFR3
Specificity
100 %
Genes
100 %
Muenke syndrome.

By MedGene in Slovakia.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia.

By MedGene in Slovakia.

FGFR3
Specificity
100 %
Genes
100 %
Invitae Craniosynostosis Panel.

By Invitae in United States.

ERF, MEGF8, GLI3, TWIST1, MSX2, RAB23, FGFR1, FGFR2, FGFR3
Specificity
12 %
Genes
100 %
Invitae FGFR3-Related Disorders Test.

By Invitae in United States.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia: FGFR3 gene mutation analysis (c.G1138A, c.G1138C).

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

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dysplasia: FGFR3 gene sequence analysis.

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

FGFR3
Specificity
100 %
Genes
100 %
Craniosynostosis: FGFR1 gene (exon 7), FGFR2 gene (exon 7) and FGFR3 gene (exons 6, 8) sequence analysis.

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

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Hypochondroplasia: FGFR3 gene mutation analysis (N540K).

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

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia: FGFR3 gene sequence analysis (exons 7, 8, 11, 13).

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

FGFR3
Specificity
100 %
Genes
100 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

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

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

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Craniosysostosis.

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

FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
6 %
Genes
100 %
Skeletal dysplasias.

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

MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
FGFR3 - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

FGFR3
Specificity
100 %
Genes
100 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, PTHLH, ARHGAP31, HOXD13, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
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
100 %
FGFR-Related Craniosynostosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
FGFR3.

By Fulgent Genetics Fulgent Genetics in United States.

FGFR3
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Achondroplasia Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

FGFR3
Specificity
100 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Metaphyseal Dysplasia Panel.

By Blueprint Genetics in Finland.

MMP9, MMP13, PTH1R, FLNA, SBDS, CDKN1C, RUNX2, RMRP, COL10A1, FGFR3, ANKH
Specificity
10 %
Genes
100 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
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
100 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

DVL1, IHH, NPR2, INPPL1, GDF5, TRPS1, ADAMTS10, TRIP11, SLC35D1, LIFR, ROR2, WNT5A, EXT1, IFT122, GNAS, WDR19, BMPR1B, LTBP2, IFT140, ADAMTSL2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
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
100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
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
100 %
Crouzon syndrome - acanthosis nigricans.

By Bioarray in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric dwarfism type II.

By Bioarray in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia.

By Bioarray in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Muenke syndrome.

By Bioarray in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia.

By Bioarray in Spain.

FGFR3
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Nevus Gene Set.

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

GNA11, GNAQ, PIK3CA, NRAS, KRAS, HRAS, FGFR3
Specificity
15 %
Genes
100 %
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
3 %
Genes
100 %
Genitourinary Tumors Gene Set.

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

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

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
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
2 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

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

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

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

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

By Guardant Health in United States.

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

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

By GeneKor MSA in Greece.

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

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

By Advanced Technology Laboratory Spectrum Health in United States.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Mutation analysis of Achondroplasia.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

FGFR3
Specificity
100 %
Genes
100 %
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
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

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

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

By OmniSeq, Inc. in United States.

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

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR3
Specificity
100 %
Genes
100 %
ACHONDROPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR3
Specificity
100 %
Genes
100 %
CRANIOSYNOSTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
SADDAN DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR3
Specificity
100 %
Genes
100 %
THANATOPHORIC DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR3
Specificity
100 %
Genes
100 %
FGFR3 - Gene sequencing.

By Genera in Brazil.

FGFR3
Specificity
100 %
Genes
100 %
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
100 %
Muenke Syndrome , Sequencing FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Crouzon Syndrome with Acanthosis Nigricans , Sequencing FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia Type 2 , Sequencing FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
SADDAN Dysplasia , Sequencing FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Thanatophoric Dysplasia Type 1 , Sequencing FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia, Sequencing FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia (Prenatal Diagnosis), Mutation (1138 G>A) FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Achondroplasia, Mutation (1138 G/A) FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia, Sequencing Exons (7, 8, 11, 13) FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia (Prenatal Diagnosis), Mutation (N540K) FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia, Mutation (N540K) FGFR3 Gene.

By Reference Laboratory Genetics in Spain.

FGFR3
Specificity
100 %
Genes
100 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

EFNB1, GLI3, TWIST1, MSX2, POR, RAB23, FGFR1, FGFR2, FGFR3
Specificity
12 %
Genes
100 %
Lacrimoauriculodentodigital Syndrome (LADD) , Panel Massive Sequencing (NGS) FGF10, FGFR2, FGFR3 Genes.

By Reference Laboratory Genetics in Spain.

FGF10, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Crouzon syndrome with acanthosis nigricans.

By Labor Dr. Wisplinghoff in Germany.

FGFR3
Specificity
100 %
Genes
100 %
Muenke syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR3
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

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

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

By Tempus Labs, Inc. in United States.

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

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Muenke Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FGFR3
Specificity
100 %
Genes
100 %
Hypochondroplasia: targeted gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FGFR3
Specificity
100 %
Genes
100 %
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
3 %
Genes
100 %
Thanatophoric Dysplasia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FGFR3
Specificity
100 %
Genes
100 %

Alternate names

Crouzon Syndrome With Acanthosis Nigricans; Can Is also known as crouzonodermoskeletal syndrome;crouzon-dermoskeletal syndrome.



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