EFNB1

OMIMHGNC

Synonym(s): LERK2, Elk-L, EPLG2, CFNS

Locus: Xq13.1

Protein: Ephrin-B1

 

Disorders

Tests

Test Type
Molecular (56)
Multi-Gene Panel (33)
Multi-Method Panel (23)
Test Method
Del/Dup (CNV) (28)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (21)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (28)
Prenatal/Carrier
Prenatal (30)
Carrier (26)
Lab Location
Poland(4)
USA(29)
Spain(8)
Portugal(5)
Germany(5)
Korea, Republic of(1)
Finland(4)
 
TAT: 2-4 weeks
price: contact lab
Craniofrontonasal Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Craniofrontonasal Syndrome test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Craniofrontonasal Dysplasia Test (the EFNB1 gene - entire)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Craniofrontonasal Dysplasia Test (the EFNB1 gene - exons: 1-4)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Craniofrontonasal Dysplasia Test (the EFNB1 gene - exons: 5, 6)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
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: 3-4 weeks
price: contact lab
Craniofrontonasal Syndrome (EFNB1 deletion/duplication analysis)
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 4-6 weeks
price: contact lab
Craniofrontonasal Syndrome (EFNB1 sequence and deletion/duplication analysis)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 3-4 weeks
price: contact lab
Craniofrontonasal Syndrome (EFNB1 sequence analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 3-4 weeks
price: contact lab
Craniofrontonasal Syndrome (EFNB1 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: $1,022.00
Craniofrontonasal Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 7-8 weeks
price: contact lab
NGS of 6 genes: ALX3, ALX4, ANKH, EFNB1, FLNA, SOST.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 8 genes: ALX3, ALX4, DHODH, EFNB1, EVC, EVC2, POLR1C, TCOF1.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 3 genes: EFNB1, MSX2, TWIST1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-9 weeks
price: contact lab
Facial Dysostosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: contact lab
EFNB1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
EFNB1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Craniofrontonasal Dysplasia , Sequencing EFNB1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Craniofrontonasal dysplasia (sequence analysis of EFNB1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Craniofrontonasal dysplasia (deletion/duplication analysis on EFNB1 gene)
method(s): ◦ Del/Dup (CNV) ◦ 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 - Hospitalet de Llobregat, Spain
Craniofrontonasal Dysplasia , Deletions-Duplications (MLPA) EFNB1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: $1,800.00
Craniosynostosis NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,300.00
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
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
TAT: 2-3 weeks
price: $850.00
Frontonasal dysplasia 1 / 2 / 3 (FND1 / FND2 / FND3) and Craniofrontonasal syndrome (CFNS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $995.00
Frontonasal dysplasia 1 / 2 / 3 (FND1 / FND2 / FND3) and Craniofrontonasal syndrome (CFNS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Craniofrontonasal syndrome (CFNS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $570.00
Craniofrontonasal syndrome (CFNS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,150.00
Craniofrontonasal syndrome (CFNS)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,745.00
Frontonasal dysplasia 1 / 2 / 3 (FND1 / FND2 / FND3) and Craniofrontonasal syndrome (CFNS)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Craniosynostosis syndromes Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
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: 4-5 Weeks
price: contact lab
EFNB1
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: 2-4 weeks
price: $2,950.00
Craniosynostosis NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 8-9 weeks
price: contact lab
Hypospadias Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Frontonasal Dysplasia, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Single gene testing EFNB1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 2-3 weeks
price: $580.00
Craniofrontonasal Syndrome via the EFNB1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Craniofrontonasal syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
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
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: 3-4 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
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