Scaphocephaly, Maxillary Retrusion, And Mental Retardation

Description

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

Clinical Features

Top most frequent phenotypes and symptoms related to Scaphocephaly, Maxillary Retrusion, And Mental Retardation

  • Intellectual disability
  • Hypertelorism
  • Ptosis
  • High palate
  • Macrocephaly
  • Ventriculomegaly
  • Intellectual disability, mild
  • Midface retrusion
  • Upslanted palpebral fissure
  • Oxycephaly
And another 13 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Scaphocephaly, Maxillary Retrusion, And Mental Retardation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

COL1A1, COL1A2, JAG1, RAF1, MECP2, FGFR3, BRAF, CDKL5, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
100 %
NGS Craniosynostosis Panel.

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

RECQL4, FGFR2, FGFR1, RAB23, POR, MSX2, TWIST1
Specificity
15 %
Genes
100 %
FGFR2-related disorders.

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

FGFR2
Specificity
100 %
Genes
100 %
Fibroblast Growth Factor Receptor 2 (FGFR2)-related Disorders Sequencing.

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

FGFR2
Specificity
100 %
Genes
100 %
LADD Syndrome, FGFR2.

By Center for Human Genetics, Inc in United States.

FGFR2
Specificity
100 %
Genes
100 %
Apert Syndrome - FGFR2 Targeted Mutation Testing.

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

FGFR2
Specificity
100 %
Genes
100 %
Beare-Stevenson Syndrome - FGFR2 Targeted Mutations.

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

FGFR2
Specificity
100 %
Genes
100 %
FGFR2-Related disorders - Sequencing.

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

FGFR2
Specificity
100 %
Genes
100 %
FGFR2-Related disorders - Del/Dup Analysis.

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

FGFR2
Specificity
100 %
Genes
100 %
Test for FGFR2-Related Craniosynostosis.

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

FGFR2
Specificity
100 %
Genes
100 %
Test for Pfeiffer syndrome.

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

FGFR2, FGFR1
Specificity
50 %
Genes
100 %
Saethre-Chotzen Syndrome.

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

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

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

FGFR3, FGFR2, FGFR1
Specificity
34 %
Genes
100 %
Antley-Bixler Like Syndrome (FGFR2 related).

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

FGFR2
Specificity
100 %
Genes
100 %
Apert Syndrome.

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

FGFR2
Specificity
100 %
Genes
100 %
Non-Syndromic Coronal Craniosynostosis.

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

FGFR3, FGFR2
Specificity
50 %
Genes
100 %
Jackson-Weiss Syndrome.

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

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

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

FGFR3, FGFR2
Specificity
50 %
Genes
100 %
Apert Syndrome - FGFR2 Exon 8.

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

FGFR2
Specificity
100 %
Genes
100 %
Craniodysmorphology Screen (Targeted FGFR1,2, and 3).

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

FGFR3, FGFR2, FGFR1
Specificity
34 %
Genes
100 %
Craniodysmorphology Panel (FGFR1,2,3,TWIST).

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

FGFR2, TWIST1
Specificity
50 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Craniosynostosis.

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

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

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.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

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.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

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.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

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

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, 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.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

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

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

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.

RECQL4, FGFR3, RUNX2, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, ASXL1, IFT43, IL11RA, IFT122 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Apert Syndrome, Crouzon Syndrome, Pfeiffer Syndrome.

By Human Genetics University Hospital Bern in Switzerland.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2. Detection of the mutations p.Ser252Trp and p.Pro253Arg by sequencing.

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

FGFR2
Specificity
100 %
Genes
100 %
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS.

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

FGFR2, COL11A1, COL11A2, COMP, EVC, EVC2, TRIP11
Specificity
15 %
Genes
100 %
FGFR2. Complete sequencing.

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

FGFR2
Specificity
100 %
Genes
100 %
FGFR2. Complete sequencing.

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

FGFR2
Specificity
100 %
Genes
100 %
FGFR2. Sequencing of the exons 8 and 10.

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

FGFR2
Specificity
100 %
Genes
100 %
FGFR2. Sequencing of the exon 2.

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

FGFR2
Specificity
100 %
Genes
100 %
Crouzon Syndrome.

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

FGFR2
Specificity
100 %
Genes
100 %
Apert Syndrome - FGFR2 Sequence Analysis of Exon 8.

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

FGFR2
Specificity
100 %
Genes
100 %
Craniosynostosis Crouzon Syndrome - FGFR2 Sequence Analysis for Exons 8 and 10.

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

FGFR2
Specificity
100 %
Genes
100 %
Craniosynostosis Crouzon/Pfeiffer Syndrome - FGFR2 Level II Sequence Analysis for Exons 3, 4, 11, and 14-17.

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

FGFR2
Specificity
100 %
Genes
100 %
Craniosynostosis Crouzon/Pfeiffer Syndrome - FGFR2 Known Point Mutation Analysis.

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

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer Syndrome - FGFR1 Exon 5 and FGFR2 Exons 8 and 10 Sequence Analysis.

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

FGFR2, FGFR1
Specificity
50 %
Genes
100 %
Craniosynostosis Next Generation Sequencing Panel.

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

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

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

FGFR3, FGFR2, FGFR1
Specificity
34 %
Genes
100 %
FGFR-Related Craniosynostosis Syndromes.

By CGC Genetics in Portugal.

FGFR3, FGFR2
Specificity
50 %
Genes
100 %
Crouzon syndrome (sequence analysis of FGFR2 gene).

By CGC Genetics in Portugal.

FGFR2
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 4 genes).

By CGC Genetics in Portugal.

FGFR3, FGFR2, FGFR1, TWIST1
Specificity
25 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes).

By CGC Genetics in Portugal.

FGFR2, FGFR1
Specificity
50 %
Genes
100 %
Saethre-Chotzen syndrome (sequence analysis of FGFR2 gene).

By CGC Genetics in Portugal.

FGFR2
Specificity
100 %
Genes
100 %
Apert syndrome (sequence analysis of FGFR2 gene).

By CGC Genetics in Portugal.

FGFR2
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.

FGFR3, RUNX2, FGFR2, FGFR1, MSX2, TWIST1, ALX4, EFNB1, ALX1, ALX3
Specificity
10 %
Genes
100 %
Crouzon syndrome (deletions/duplications analysis of FGFR2 gene).

By CGC Genetics in Portugal.

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer syndrome (deletions/duplications analysis of FGFR2 gene).

By CGC Genetics in Portugal.

FGFR2
Specificity
100 %
Genes
100 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PAX6, OTX2, SOX2, HESX1, FGFR2, PROP1, SLC12A6, FGF8, ANOS1, POU1F1, GH1, SOX3, GLI2, LHX4, LHX3, EPG5, TAX1BP3
Specificity
6 %
Genes
100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
100 %
Crouzon syndrome (deletions/duplications analysis of FGFR2 gene).

By CGC Genetics in Portugal.

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer syndrome (deletions/duplications analysis of FGFR2 gene).

By CGC Genetics in Portugal.

FGFR2
Specificity
100 %
Genes
100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
100 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PAX6, OTX2, SOX2, HESX1, FGFR2, PROP1, SLC12A6, FGF8, ANOS1, POU1F1, GH1, SOX3, GLI2, LHX4, LHX3, EPG5, TAX1BP3
Specificity
6 %
Genes
100 %
FGFR2-Related Craniosynostosis.

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

FGFR2
Specificity
100 %
Genes
100 %
Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FGFR3, FGFR2, FGFR1, TWIST1, TCF12
Specificity
20 %
Genes
100 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DHODH, FGFR3, CREBBP, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, FGFR1, POLR1C, TCOF1, POLR1D, TWIST1, EP300, EFTUD2, SRCAP, TCF12, SF3B4
Specificity
6 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
FGFR2-Related Disorders via the FGFR2 Gene.

By PreventionGenetics PreventionGenetics in United States.

FGFR2
Specificity
100 %
Genes
100 %
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FGFR3, FGFR2, SLC26A2, WDR35, SOX9, IFT140, WDR19, TTC21B, IFT80, EVC, EVC2, IFT122, TCTN3, IFT172, DYNC2H1, NEK1, WDR60, WDR34, PAPSS2
Specificity
6 %
Genes
100 %
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 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

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.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

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

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

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

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
FGFR2 related craniosynostosis NGS Test.

By Connective Tissue Gene Tests in United States.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2 related craniosynostosis Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FGFR2
Specificity
100 %
Genes
100 %
Bent bone dysplasia syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2 related craniosynostosis Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FGFR2
Specificity
100 %
Genes
100 %
Bent bone dysplasia syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

FGFR2
Specificity
100 %
Genes
100 %
Bent bone dysplasia syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2-related lacrimo-auriculo-dento-digital syndrome.

By Institute of Human Genetics Cologne University in Germany.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2-related craniosynostosis.

By Institute of Human Genetics Cologne University in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Saethre-chotzen syndrome, FGFR2-related.

By Institute of Human Genetics Cologne University in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
FGFR2-Related Craniosynostosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
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 %
Antley-Bixler syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Apert syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
LADD syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Saethre-Chotzen syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Scaphocephaly, maxillary retrusion, and mental retardation.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Gastric cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
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
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 %
Craniofacial-skeletal-dermatologic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Beare-Stevenson cutis gyrata syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Bent bone dysplasia syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Jackson-Weiss syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2-Related Craniosynostosis.

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

FGFR2
Specificity
100 %
Genes
100 %
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
100 %
Septo-optical dysplasia Panel.

By CeGaT GmbH in Germany.

OTX2, SOX2, HESX1, FGFR2, PROKR2, SOX3, TAX1BP3
Specificity
15 %
Genes
100 %
Single gene testing FGFR2.

By CeGaT GmbH in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

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

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
FGFR2-Related Craniosynostosis.

By Medical Genetics Unit Sistemas Genómicos in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Skeletal Dysplasia.

By Asper Biogene Asper Biogene LLC in Estonia.

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

By Asper Biogene Asper Biogene LLC in Estonia.

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

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

FGFR2
Specificity
100 %
Genes
100 %
FGFR2-Related Craniosynostosis.

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

FGFR2
Specificity
100 %
Genes
100 %
Saethre-Chotzen Syndrome, FGFR2-Related.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2-Related Craniosynostosis.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR2
Specificity
100 %
Genes
100 %
Beare-Stevenson syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR2
Specificity
100 %
Genes
100 %
Crouzon syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR2
Specificity
100 %
Genes
100 %
Jackson-Weiss syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR2
Specificity
100 %
Genes
100 %
FGFR2.

By Division Human Genetics Medical University Innsbruck in Austria.

FGFR2
Specificity
100 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Beare-Stevenson syndrome.

By MedGene in Slovakia.

FGFR2
Specificity
100 %
Genes
100 %
Crouzon syndrome.

By MedGene in Slovakia.

FGFR2
Specificity
100 %
Genes
100 %
Jackson-Weiss syndrome.

By MedGene in Slovakia.

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer syndrome.

By MedGene in Slovakia.

FGFR2
Specificity
100 %
Genes
100 %
Invitae Craniosynostosis Panel.

By Invitae in United States.

FGFR3, FGFR2, FGFR1, RAB23, MSX2, TWIST1, GLI3, MEGF8, ERF
Specificity
12 %
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.

FGFR3, FGFR2, FGFR1
Specificity
34 %
Genes
100 %
Craniosynostosis: FGFR2 gene sequence analysis.

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

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer syndrome: FGFR1 gene (exon 7) and FGFR2 gene (exons 7-8, 13-15) screening.

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

FGFR2, FGFR1
Specificity
50 %
Genes
100 %
Jackson-Weiss syndrome: FGFR2 gene sequence analysis.

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

FGFR2
Specificity
100 %
Genes
100 %
Craniosysostosis.

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

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

By Genome Diagnostics VU University Medical Center in Netherlands.

FGFR2
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
2 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

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.

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
1 %
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
2 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

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.

FGFR3, FGFR2, FGFR1
Specificity
34 %
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
1 %
Genes
100 %
FGFR2.

By Fulgent Genetics Fulgent Genetics in United States.

FGFR2
Specificity
100 %
Genes
100 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

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

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
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 %
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 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

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.

RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Apert syndrome.

By Bioarray in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Crouzon disease.

By Bioarray in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Antley-Bixler syndrome.

By Bioarray in Spain.

FGFR2
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 %
Genitourinary Tumors Gene Set.

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

BRCA1, BRCA2, VHL, MLH1, PTEN, TP53, PPARG, FGFR3, AR, BRAF, CREBBP, HRAS, NRAS, FGFR2, TSC2, TSC1, ATM, PTCH1, CDKN2A, MET , (...)

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.

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 %
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 Breast.

By Circulogene Theranostics in United States.

FGFR2
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 %
ANTLEY-BIXLER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR2, POR
Specificity
50 %
Genes
100 %
CRANIOSYNOSTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR3, FGFR2, FGFR1
Specificity
34 %
Genes
100 %
CROUZON SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR2
Specificity
100 %
Genes
100 %
JACKSON-WEISS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR2
Specificity
100 %
Genes
100 %
PFEIFFER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR2, FGFR1
Specificity
50 %
Genes
100 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Craniosynostosis, Sequencing FGFR2 Gene.

By Reference Laboratory Genetics in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Antley-Bixler (Skeletal Form) Syndrome, Sequencing FGFR2 Gene.

By Reference Laboratory Genetics in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Jackson-Weiss Syndrome , Sequencing FGFR2 Gene.

By Reference Laboratory Genetics in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Apert Syndrome , Sequencing FGFR2 Gene.

By Reference Laboratory Genetics in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Apert Syndrome, Deletions-Duplications (MLPA) FGFR2 Gene.

By Reference Laboratory Genetics in Spain.

FGFR2
Specificity
100 %
Genes
100 %
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

FGFR3, FGFR2, FGF10
Specificity
34 %
Genes
100 %
Jackson-Weiss syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR2, FGFR1
Specificity
50 %
Genes
100 %
Crouzon syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR2
Specificity
100 %
Genes
100 %
Pfeiffer syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR2, FGFR1
Specificity
50 %
Genes
100 %
Saethre-Chotzen syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR2
Specificity
100 %
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 %
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 Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA2, APC, TP53, RET, FGFR2, CDH1, STK11, MET, LRRK2, S1PR2, CTNNB1, NOTCH1, SPEG, PIK3CA, FBXW7, PRKDC, ERBB2, MYC, DCC, TRIO , (...)

View the complete list with 9 more genes
Specificity
4 %
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 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 %

Alternate names

Scaphocephaly, Maxillary Retrusion, And Mental Retardation Is also known as ;scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome.



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