FOXL2

OMIMHGNC

Synonym(s): BPES1, BPES

Locus: 3q22.3

Protein: FOXL2 protein

 

Disorders

Tests

Test Type
Molecular (46)
Cytogenetic (1)
Multi-Gene Panel (28)
Multi-Method Panel (19)
Test Method
Del/Dup (CNV) (24)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (13)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (25)
Prenatal/Carrier
Prenatal (22)
Carrier (26)
Lab Location
Netherlands(1)
Turkey(1)
USA(25)
Spain(6)
Portugal(2)
Bulgaria(1)
Poland(1)
Germany(4)
Canada(2)
Finland(4)
 
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):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, 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
Blepharophimosis-Ptosis-Epicanthus Inversus, Sequencing FOXL2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
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
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 - Hospitalet de Llobregat, Spain
Blepharophimosis, Epicanthus Inversus, and Ptosis: FOXL2 gene deletions-duplications analysis (MLPA)
method(s): ◦ Del/Dup (CNV) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
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
FOXL2 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
TAT: 8-9 weeks
price: contact lab
Premature Ovarian Failure Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Premature Ovarian Failure (POF) and Related Disorders, Panel Massive Sequencing (NGS) 15 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
FOXL2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 3-4 weeks
price: $690.00
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 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
TAT: ~2 weeks
price: contact lab
Blepharophimosis, epicanthus inversus, and ptosis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
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
FOXL2 - Gene Sequencing and CNV analysis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
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: 3-4 weeks
price: $1,670.00
Disorders of Sex Development 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
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
TAT: ~2 weeks
price: $1,790.00
POF FertilityReady / Premature Ovarian Failure Panel (22 Genes Sequenced)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,500.00
Premature Ovarian Failure 3 / Blepharophimosis (FOXL2 Sequencing)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: 7-8 weeks
price: contact lab
Microphthalmia/anophthalmia/coloboma spectrum panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Comprehensive Short Stature Syndrome 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, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Premature Ovarian Failure Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Short Stature 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
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
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Premature Ovarian Failure Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA