FOXL2

OMIMHGNC

Synonym(s): BPES1, BPES

Locus: 3q23

Protein: FOXL2 protein

 

Disorders

Tests

Test Type
Molecular (18)
Cytogenetic (1)
Panel (4)
Test Method
Del/Dup (CNV) (6)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (8)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (3)
Carrier (1)
Lab Location
Turkey(1)
USA(9)
Spain(5)
Portugal(2)
Poland(1)
Germany(1)
 
TAT: 7-10 days
price: contact lab
FOXL2 Mutation
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 4-6 weeks
price: contact lab
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 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
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 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: 2-3 weeks
price: contact lab
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 sequence analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 analysis for a known point mutation)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, 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
Sanger sequencing of the FOXL2
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
Detection of large deletions and/ or duplications in the FOXL2 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: $610.00
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Blepharophimosis-Ptosis-Epicanthus Inversus, Sequencing FOXL2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
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
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 and 2 (BPES 1 and 2, sequence analysis of FOXL2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Blepharophimosis, epicanthus inversus and ptosis, types 1 and 2 (BPES 1 and 2, deletion/duplication analysis of FOXL2 gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Blepharophimosis-Ptosis-Epicanthus Inversus, Deletions-Duplications (MLPA) FOXL2 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
Clinical Exome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
FOXL2
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Blepharophimosis, Epicanthus Inversus, and Ptosis: FOXL2 gene deletions-duplications analysis (MLPA)
method(s): ◦ Del/Dup (CNV) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 7-8 weeks
price: contact lab
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

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