FGFR2

OMIMHGNC

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

Locus: 10q26.13

Protein: Soluble FGFR4 variant 4

 

Disorders

Tests

Test Type
Molecular (192)
Cytogenetic (2)
Multi-Gene Panel (125)
Multi-Method Panel (54)
Test Method
Del/Dup (CNV) (59)
Multicolor FISH (M-FISH) / Spectral Karotyping (tm) (SKY (tm)) (1)
Mutation Scanning of Select Exons (5)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (82)
Genotyping (Microarray, Beads, etc.) (2)
Sequencing, Next Gen (97)
Prenatal/Carrier
Prenatal (105)
Carrier (88)
Lab Location
USA(91)
Germany(37)
Bulgaria(1)
Estonia(3)
Turkey(2)
Netherlands(1)
Canada(19)
Spain(14)
Portugal(12)
Poland(4)
Australia(2)
Greece(1)
Austria(1)
Finland(5)
 
Apert Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) 
Asper Biogene LLC - 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
FGFR2-Related Craniosynostosis Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 3-5 weeks
price: contact lab
Combined Skeletal Dysplasia and Osteogenesis Imperfecta 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): ◦ 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): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
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: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Disproportionate Short Stature: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Limb Malformation: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, 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: 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: 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: contact lab
price: $1,177.00
Skeletal Dysplasia
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
TAT: 2-3 weeks
price: contact lab
Bent bone dysplasia syndrome (BBDS)
method(s): ◦ Sequencing, Next Gen 
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: 2-3 weeks
price: contact lab
FGFR2 related craniosynostosis
method(s): ◦ Sequencing, Next Gen 
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 - Hospitalet de Llobregat, Spain
Craniosynostosis, Sequencing FGFR1 (Exon 7), FGFR2 (Exon 7) and FGFR3 (Exons 6 and 8) Genes
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Jackson-Weiss Syndrome , Sequencing FGFR2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, 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 - Hospitalet de Llobregat, 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
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Apert syndrome (sequence analysis of FGFR2 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Saethre-Chotzen syndrome (sequence analysis of FGFR2 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Crouzon syndrome (sequence analysis of FGFR2 gene)
method(s): ◦ Sequencing, Next Gen 
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 - Hospitalet de Llobregat, Spain
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 (FGFR2, p.Ser252Trp and p.Pro253Arg)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Beare-Stevenson Syndrome (FGFR2, p.Ser372Cys and p.Tyr375Cys)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 2-4 weeks
price: contact lab
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: 3-5 weeks
price: contact lab
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 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
NGS Craniosynostosis Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair)
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Septo-Optic Dysplasia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 1-2 weeks
price: contact lab
Targeted Somatic Cancer Panel Sequencing (TSP50)
method(s): ◦ Sequencing, Next Gen 
Genomics for Life APA 1164 - Herston, Queensland, Australia
TAT: 1-2 weeks
price: contact lab
Targeted Somatic Panel Sequencing (TSP22)
method(s): ◦ Sequencing, Next Gen 
Genomics for Life APA 1164 - Herston, Queensland, Australia
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 3 weeks
price: contact lab
Solid Tumor Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 3 weeks
price: contact lab
CNS Tumor Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 3 weeks
price: contact lab
Melanoma Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Craniosynostosis (NGS panel for 30 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Craniosynostosis (NGS panel for 4 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing FGFR2
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Targeted Gastric Tumor Mutation: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Targeted Tumor Mutation (Lung, Colon, Melanoma, Gastric, Ovarian): Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Disproportionate Short Stature: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Disproportionate Short Stature: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Limb Malformation: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Limb Malformation: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-6 weeks
price: contact lab
Craniosynostosis syndromes Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Potentially lethal skeletal disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Selected Genetic Syndromes with skeletal involvement Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
FGFR2 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
Com.Pl.i.t. DX 54 genes - Comprehensive Panel for Individualized Cancer Threatment
method(s): ◦ Del/Dup (CNV) ◦ Multicolor FISH (M-FISH) / Spectral Karotyping (tm) (SKY (tm)) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
GeneKor Medical S.A. - Athens, Greece
TAT: 4-6 weeks
price: contact lab
Combined Immunodeficiencies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Syndromes with Immunodeficiency Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
OnkoSight Solid Tumor Panel
method(s): ◦ Sequencing, Next Gen 
GenPath - Elmwood Park, NJ, USA
OnkoSight Lung Cancer Panel
method(s): ◦ Sequencing, Next Gen 
GenPath - Elmwood Park, NJ, USA
Craniofacial Disorders, Panel Deletion-Duplication (MLPA) (FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1, RUNX2) Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab
price: $1,201.00
Craniosynostosis
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
TAT: 7-10 days
price: contact lab
Comprehensive Craniosynostosis Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Genetics Center - Orange, CA, USA
TAT: 2-3 weeks
price: contact lab
Bent Bone Dysplasia Syndrome (BBDS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Bent Bone Dysplasia Syndrome (BBDS)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Apert Syndrome, Sequencing FGFR2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 Weeks
price: contact lab
FGFR-Related Craniosynostosis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
FGFR2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Skeletal Dysplasias NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: contact lab
Craniosynostosis NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Craniosynostosis mutations panel, prenatal
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Craniosynostosis (NGS panel for 5 genes, PND)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 1-2 weeks
price: contact lab
Bent bone dysplasia syndrome (BBDS) exon 11b
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Bent bone dysplasia syndrome (BBDS) remaining
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
Pfeiffer syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-8 weeks
price: contact lab
Craniosynostosis: FGFR2 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 4-8 weeks
price: contact lab
Crouzon Syndrome, FGFR2 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 8-9 weeks
price: contact lab
Hypospadias Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: $690.00
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: 3-4 weeks
price: $1,290.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $770.00
Craniosynostosis and Related Disorders Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Facial Dysostosis Related Disorders Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $690.00
FGFR2-Related Disorders via the FGFR2 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,540.00
Craniosynostosis and Related Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,690.00
Facial Dysostosis Related Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,740.00
Short Rib Skeletal Dysplasia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Short Rib Skeletal Dysplasia Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Bent bone dysplasia syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Antley-Bixler syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Apert syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Jackson-Weiss syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Crouzon syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Saethre-Chotzen syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Antley-Bixler (Skeletal Form) Syndrome, Sequencing FGFR2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 11-12 weeks
price: contact lab
Craniosynostosis NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
Gastric Cancer (Magenkarzinom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Lacrimoauriculodentodigital Syndrome (LADD), Panel Massive Sequencing (NGS) FGF10, FGFR2, FGFR3 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
CEN4GEN Lung cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Lung cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Gastric cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Gastric cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Breast cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2 weeks
price: contact lab
PreSeek Non-invasive Prenatal Gene Sequencing Screen
method(s): ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: ~2 weeks
price: contact lab
Beare-Stevenson cutis gyrata syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Craniofacial-skeletal-dermatologic dysplasia
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
LADD syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Craniosynostosis, nonspecific
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Pfeiffer syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Scaphocephaly, maxillary retrusion, and mental retardation
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
Craniosynostosis core NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Craniosynostosis core NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Craniosynostosis core NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3 weeks
price: contact lab
Breast Tumors Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 3 weeks
price: contact lab
Genitourinary Tumors Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 3 weeks
price: contact lab
Gynecologic Tumors Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 10 weeks
price: contact lab
FGFR2 - Gene sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Craniosynostosis and craniofacial disorders panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $2,240.00
Disorders of Sex Development and Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development and Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Disorders of Sex Development Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Female Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Female Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,190.00
Male Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Male Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Apert Syndrome, Deletions-Duplications (MLPA) FGFR2 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 1-3 weeks
price: $1,500.00
Invitae Craniosynostosis Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: ~2 weeks
price: contact lab
Cancer Hotspot Panel (somatic mutation analysis)
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Craniosynostosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Facial Dysostosis and Related Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal Dysplasias and Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasias Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Craniosynostosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Facial Dysostosis and Related Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal Dysplasias and Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasias Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
Mental Retardation - different panels
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 3-5 weeks
price: $2,190.00
Skeletal Disorders and Joint Problems Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Skeletal Disorders and Joint Problems Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA