BFSP2

OMIMHGNC

Synonym(s): CP47, CP49, LIFL-L, phakinin

Locus: 3q22.1

Protein: Phakinin

 

Disorders

Tests

Test Type
Molecular (12)
Multi-Gene Panel (8)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (10)
Prenatal/Carrier
Prenatal (2)
Carrier (4)
Lab Location
Germany(3)
Portugal(2)
USA(3)
Poland(1)
Finland(1)
Austria(1)
Estonia(1)
 
Eye Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 7-8 weeks
price: contact lab
Cataract
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Cataract Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Cataracts (NGS panel of 41 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing BFSP2
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 8-9 weeks
price: contact lab
Cataract type 12 (sequence analysis of BFSP2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
BFSP2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Cataract Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-5 weeks
price: $1,840.00
Congenital Cataracts Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Cataract (Katarakt)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 1-3 weeks
price: $1,500.00
Invitae Congenital Cataracts Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
Cataract
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia