TGFBI

OMIMHGNC

Synonym(s): BIGH3, CDB1, CDGG1, CSD3, LCD1, CSD1, CSD2

Locus: 5q31.1

Protein: Transforming growth factor beta

 

Disorders

Tests

Test Type
Molecular (16)
Multi-Gene Panel (6)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (10)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (5)
Carrier (9)
Lab Location
USA(5)
Singapore(1)
Poland(1)
Estonia(1)
Spain(4)
Portugal(1)
Bulgaria(1)
Finland(1)
Germany(1)
 
TAT: 1 week
price: contact lab
TGFBI mutation screen
method(s): ◦ Sequencing, Capillary (Sanger) 
Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital - Singapore, Singapore
Cornea Dystrophies Test (the TGFBI gene - entire)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: contact lab
price: $1,201.00
Corneal Dystrophy
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Reis-Buckler Corneal Distrophy , Sequencing TGFBI Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Lattice Corneal Dystrophy Type I, Sequencing TGFBI Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Corneal dystrophy, Avellino type (mutations pArg555trp and pArg124His on TGFBI gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TGFBI Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
Corneal Dystrophy, Panel Massive Sequencing (NGS) 20 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
TGFBI
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Corneal Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 2-3 weeks
price: $1,020.00
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,840.00
Corneal Dystrophies 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
Corneal Dystrophies 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
Corneal dystrophy, epithelial basement membrane
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Corneal Dystrophy Type Avellino, Sequencing TGFBI Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Corneal Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA