FOXL2

OMIMHGNC

Synonym(s): BPES1, BPES

Locus: 3q23

Protein: FOXL2 protein

 

Disorders

Tests

Test
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
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, Molecular Genetics Laboratory - Philadelphia, PA, USA
TAT: 4-6 weeks
price: contact lab
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 deletion/duplication analysis)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - 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, Molecular Genetics Laboratory - 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) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Blepharophimosis-Ptosis-Epicanthus Inversus, Sequencing FOXL2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4-5 weeks
price: contact lab
Detection of large deletions and/ or duplications in the FOXL2 gene by MLPA
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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: 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: 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