FBLN1

OMIMHGNC

Synonym(s): FBLN

Locus: 22q13.31

Protein: Fibulin-1

 

Disorders

    Tests

    Test Type
    Molecular (9)
    Cytogenetic (1)
    Multi-Gene Panel (9)
    Multi-Method Panel (4)
    Test Method
    Del/Dup (CNV) (4)
    Sequencing, Capillary (Sanger) (4)
    Sequencing, Next Gen (6)
    Prenatal/Carrier
    Prenatal (4)
    Carrier (5)
    Lab Location
    USA(4)
    Spain(1)
    Canada(4)
    Germany(1)
     
    TAT: 12-13 weeks
    price: contact lab
    Skeletal Dysplasia: Sequencing Panel
    method(s):
    Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
    TAT: 12-13 weeks
    price: contact lab
    Limb Malformation: Sequencing Panel
    method(s):
    Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
    Limb Malformation: Sequencing Panel
    method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
    CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
    Limb Malformation: Deletion/Duplication Panel
    method(s): ◦ Del/Dup (CNV) 
    CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
    Skeletal Dysplasia: Sequencing Panel
    method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
    CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
    Skeletal Dysplasia: Deletion/Duplication Panel
    method(s): ◦ Del/Dup (CNV) 
    CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
    TAT: 4-6 weeks
    price: contact lab
    Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel
    method(s): ◦ Sequencing, Next Gen 
    CeGaT GmbH - Tübingen, Germany
    TAT: 4-5 Weeks
    price: contact lab
    FBLN1
    method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
    Fulgent Diagnostics - Temple City, CA, USA
    TAT: 4-6 Weeks
    price: contact lab
    Skeletal Dysplasias NGS Panel
    method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
    Fulgent Diagnostics - Temple City, CA, USA
    Synpolydactyly, Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes
    method(s): ◦ Sequencing, Next Gen 
    Reference Laboratory Genetics - Hospitalet de Llobregat, Spain