FGFR1

OMIMHGNC

Synonym(s): H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331, FLT2, KAL2

Locus: 8p11.23-p11.22

Protein: Fibroblast growth factor receptor 1

 

Disorders

Tests

Test Type
Molecular (55)
Panel (38)
Test Method
Del/Dup (CNV) (9)
Mutation Scanning of Select Exons (2)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (23)
Genotyping (Microarray, Beads, etc.) (2)
Sequencing, Next Gen (25)
Prenatal/Carrier
Prenatal (21)
Carrier (10)
Lab Location
USA(35)
Spain(10)
Germany(4)
Canada(1)
Poland(1)
Estonia(1)
Portugal(3)
 
TAT: 2-3 weeks
price: contact lab
Osteoglophonic Dysplasia Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
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: 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
Craniosynostosis: Pfeiffer Syndrome (FGFR1 sequence analysis of exon 5)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, 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
Pfeiffer syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, 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: 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: $662.00
Pfeiffer Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 3-4 weeks
price: $990.00
FGFR1-Related Disorders via the FGFR1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Sanger sequencing of exon 10 of FGFR1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS and Sanger sequencing of the FGFR1 gene
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 6 genes: ANO5, EXT1, EXT2, FGFR1, GNAS, SH3BP2
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 1-2 weeks
price: contact lab
FGFR1 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: 3-4 weeks
price: contact lab
FGFR1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 7-8 weeks
price: contact lab
FGFR1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 10-12 weeks
price: contact lab
Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Pfeiffer Syndrome Test (the FGFR1 gene-selected fragment)
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
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
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
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
Kallmann Syndrome Type 2, Sequencing FGFR1 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
Kallmann Syndrome Type 2, Deletions-Duplications (MLPA) FGFR1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
Kallmann Syndrome , Panel Massive Sequencing (NGS) 16 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Trigonocephaly 1 (sequence analysis of FGFR1 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
Holoprosencephaly Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
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
FGFR1
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hypogonadotropic Hypogonadism (HH) and Related Disorders
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
TAT: 4-6 Weeks
price: contact lab
Kallmann Syndrome
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
Pfeiffer Syndrome (FGFR1 and FGFR2)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Kallmann Syndrome
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
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: 4-6 weeks
price: contact lab
Holoprosencephaly Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-10 weeks
price: contact lab
NGS Craniosynostosis Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA

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