FGFR2

OMIMHGNC

Synonym(s): CEK3, TK14, TK25, ECT1, K-SAM, CD332, KGFR, BEK, CFD1, JWS

Locus: 10q25.3-q26

Protein: Soluble FGFR4 variant 4

 

Disorders

Tests

Test Type
Molecular (92)
Cytogenetic (2)
Panel (45)
Test Method
Del/Dup (CNV) (13)
Mutation Scanning of Select Exons (5)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (58)
Genotyping (Microarray, Beads, etc.) (5)
Sequencing, Next Gen (24)
Prenatal/Carrier
Prenatal (42)
Carrier (14)
Lab Location
USA(55)
Estonia(3)
Germany(12)
Turkey(2)
Canada(4)
Spain(9)
Portugal(5)
Poland(4)
 
TAT: 4-6 weeks
price: contact lab
Breast and Ovarian Cancer Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 4-6 weeks
price: contact lab
Apert Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 2 weeks
price: contact lab
FGFR2-Related Craniosynostosis Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
FGFR2-Related Craniosynostosis Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada
TAT: 3-4 weeks
price: contact lab
FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
TAT: 3-5 weeks
price: contact lab
FGFR3-Related Lacrimo-Auriculo-Dento-Digital Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
TAT: 3-5 weeks
price: contact lab
Skeletal Dysplasia Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
Insight Medical Genetics, LLC - Chicago, IL, USA
Apert Syndrome Test (the FGFR2 gene - selected fragments/the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Crouzon Syndrome Test (the FGFR2 gene - selected fragments/the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 2-3 weeks
price: contact lab
Craniosynostosis: Apert Syndrome (FGFR2 sequence analysis of Exon 8)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 6-8 weeks
price: contact lab
Craniosynostosis Panel (FGFR1, FGFR2, FGFR3, and TWIST1 sequence analysis and TWIST1 deletion/duplication analysis)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 6-8 weeks
price: contact lab
Craniofacial Panel Plus MLPA (19 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 6-8 weeks
price: contact lab
Craniofacial Panel (19 genes)
method(s): ◦ Sequencing, Next Gen 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
Craniosynostosis: Crouzon/Pfeiffer Syndrome (FGFR2 sequence analysis of exons 8 and 10)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 4-6 weeks
price: contact lab
Craniosynostosis: Crouzon/Pfeiffer Syndrome level II (FGFR2 sequence analysis of exons 3, 4, 11, 14-17)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
Craniosynostosis: Crouzon/Pfeiffer Syndrome (FGFR2 analysis for a known point mutation)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
Craniosynostosis: Pfeiffer Syndrome (FGFR1 sequence analysis of exon 5 and FGFR2 exons 8 and 10)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
Apert syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Apert syndrome
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Beare-Stevenson cutis gyrata syndrome (BSTVS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Crouzon syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
FGFR1, FGFR2, FGFR3 and TWIST1 related craniosynostosis panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
FGFR2 related craniosynostosis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Jackson-Weiss syndrome (JWS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Pfeiffer syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 5-6 weeks
price: contact lab
Targeted Tumor Mutation: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 5-6 weeks
price: contact lab
Targeted Gastric Tumor Mutation: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Disproportionate Short Stature: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Limb Malformation: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Apert Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 4-6 weeks
price: contact lab
Crouzon Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 4-6 weeks
price: contact lab
Pfeiffer Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 2 weeks
price: $302.00
Apert Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 2 weeks
price: $422.00
Antley-Bixler Like Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 2 weeks
price: $542.00
Coronal Synostosis (Non-Syndromic) Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 2 weeks
price: $542.00
Crouzon Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 2 weeks
price: $542.00
Jackson-Weiss Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 2 weeks
price: $662.00
Pfeiffer Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Saethre-Chotzen Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 3-4 weeks
price: $1,100.00
FGFR2-Related Disorders via the FGFR2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
FGFR2-Related Disorders via the FGFR2 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Detection of mutations S252W and P253R in the FGFR2 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of FGFR2 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Mutation screening in exons 8 and 10 of the FGFR2 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Sanger sequencing of exons 8 and 10 of the FGFR2 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 1-2 weeks
price: contact lab
FGFR2 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 12-16 weeks
price: contact lab
Craniosynostosis NGS Panel
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 2-4 weeks
price: contact lab
FGFR2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Pfeiffer Syndrome Test (the FGFR2 gene-selected fragments/the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 4-6 weeks
price: contact lab
Skeletal Dysplasia
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 1-2 weeks
price: contact lab
Bent bone dysplasia syndrome (BBDS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Apert syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Crouzon syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
FGFR1, FGFR2, FGFR3 and TWIST1 related craniosynostosis panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
FGFR2 related craniosynostosis
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Jackson-Weiss syndrome (JWS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Pfeiffer syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
Syndromic Craniosynostosis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
LADD syndrome / ALSG syndrome
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Craniosynostosis, Sequencing FGFR2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Cranyosinostosis, Sequencing FGFR1 (Exon 7), FGFR2 (Exon 7) and FGFR3 (Exons 6 and 8) Genes
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Barcelona, Spain
Jackson-Weiss Syndrome , Sequencing FGFR2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Pfeiffer Syndrome, Sequencing Exon (7) FGFR1 Gene and Exons (7-8, 13-15) FGFR2 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Barcelona, Spain
Somatic Cancer Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 3-4 weeks
price: contact lab
Comprehensive Cancer Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Apert syndrome (sequence analysis of FGFR2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Saethre-Chotzen syndrome (sequence analysis of FGFR2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Crouzon syndrome (sequence analysis of FGFR2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Craniosynostosis by CGC Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Craniofacial Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Syndromic Craniosynostosis, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 7-10 Days
price: contact lab
Cancer 2800
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Clinical Exome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
FGFR-Related Craniosynostosis
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
FGFR2
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Skeletal Dysplasias
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Apert Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
FGFR2-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Pfeiffer Syndrome (FGFR1 and FGFR2)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Crouzon Syndrome (FGFR2)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Apert Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Beare-Stevenson Syndrome (FGFR2)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 3-4 weeks
price: $2,390.00
Craniosynostosis NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Craniosynostosis NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Craniofacial Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 7-8 weeks
price: contact lab
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 8-10 weeks
price: contact lab
Fetal Akinesia / Arthrogryposis (AMC) - Multi-gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

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