SERPINF1

OMIMHGNC

Synonym(s): EPC-1, PIG35, PEDF

Locus: 17p13.3

Protein: Pigment epithelium-derived factor

 

Disorders

Tests

Test Type
Molecular (46)
Multi-Gene Panel (34)
Multi-Method Panel (24)
Test Method
Del/Dup (CNV) (27)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (12)
Sequencing, Next Gen (32)
Prenatal/Carrier
Prenatal (28)
Carrier (26)
Lab Location
Spain(4)
USA(29)
Netherlands(1)
Germany(4)
Finland(6)
Portugal(1)
Austria(1)
 
TAT: 3-5 weeks
price: contact lab
Combined Skeletal Dysplasia and Osteogenesis Imperfecta Panel
method(s): ◦ Sequencing, Next Gen 
Insight Medical Genetics, LLC - Chicago, IL, USA
TAT: 4-5 weeks
price: contact lab
SERPINF1 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
SERPINF1 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
SERPINF1 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
SERPINF1 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
SERPINF1 Sequence and Del/Dup Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: $1,305.00
Osteogenesis imperfecta, type VI
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Osteogenesis imperfecta, type VI
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,150.00
Osteogenesis imperfecta NGS panel - Recessive
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,300.00
Osteogenesis imperfecta NGS panel - Dominant and Recessive
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 10 genes: COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 8 genes: CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2-4 weeks
price: $1,490.00
Osteogenesis imperfecta NGS panel - Dominant and Recessive
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,290.00
Osteogenesis imperfecta NGS panel - Recessive
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Osteogenesis Imperfecta Type 6
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Osteogenesis Imperfecta (Full Panel) , Panel Massive Sequencing (NGS) 12 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-5 weeks
price: contact lab
Autosomal Recessive Osteogenesis Imperfecta (OI) Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Collagen Diagnostic Laboratory - Seattle, WA, USA
Osteogenesis Imperfecta
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Osteogenesis imperfecta (panel NGS de 16 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 1-2 weeks
price: $725.00
Osteogenesis imperfecta, type VI
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Osteogenesis imperfecta and skeletal dysplasia with decreased bone density Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Osteogenesis Imperfecta (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 Weeks
price: contact lab
Amelogenesis Imperfecta NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
SERPINF1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $2,290.00
Osteogenesis imperfecta NGS panel - Recessive Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,640.00
Osteogenesis imperfecta NGS panel - Dominant and Recessive Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Dominant and Recessive OI Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Collagen Diagnostic Laboratory - Seattle, WA, USA
TAT: 2-3 weeks
price: $680.00
Osteogenesis Imperfecta via the SERPINF1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Osteogenesis imperfecta (Osteogenesis imperfecta)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-5 weeks
price: $2,390.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Osteogenesis imperfecta type 6
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $2,540.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 16-20 weeks
price: contact lab
NGS panel - Osteogenesis Imperfecta and related disorders
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 4-5 weeks
price: contact lab
Osteogenesis imperfecta and low bone density disorders panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
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
Osteogenesis Imperfecta Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasia with Abnormal Mineralization Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal Dysplasias and Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Osteogenesis Imperfecta Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasias Core 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, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Osteogenesis Imperfecta Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasia with Abnormal Mineralization 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 Dysplasias and Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Osteogenesis Imperfecta Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasias Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA