COL17A1

OMIMHGNC

Synonym(s): BP180, BPAG2

Locus: 10q25.1

Protein: Collagen alpha-1

 

Disorders

Tests

Test Type
Molecular (31)
Multi-Gene Panel (20)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (11)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (19)
Prenatal/Carrier
Prenatal (14)
Carrier (15)
Lab Location
Spain(4)
USA(16)
Portugal(3)
Estonia(1)
Germany(4)
Poland(2)
Finland(1)
 
TAT: 7-8 weeks
price: contact lab
NGS of 2 genes: COL17A1, COL7A1.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: contact lab
COL17A1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 10-12 weeks
price: contact lab
COL17A1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 10-12 weeks
price: contact lab
XomeDxSlice EB
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: contact lab
price: $1,201.00
Corneal Dystrophy
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 6-7 weeks
price: contact lab
Epidermolysis Bullosa (EBSeq) Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 11-12 weeks
price: contact lab
COL17A1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Junctional Epidermolysis Bullosa Type Not Herlitz, Sequencing COL17A1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Skin Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Epidermolysis Bullosa, Panel Massive Sequencing (NGS) 8 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Epidermolysis bullosa junctional (sequence analysis of COL17A1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Epidermolysis bullosa late-onset junctional - 5 genes (NGS panel for COL17A1, LAMA3, LAMB3, LAMC2 and ITGB4 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: $1,500.00
Epidermolysis Bullosa NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,150.00
Epidermolysis Bullosa NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
Epideromolysis Bullosa
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 4 weeks
price: contact lab
COL17A1 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Genetic Epidermolyses and Blistering Disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Epidermolysis bullosa junctional (NGS panel for 5 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4 weeks
price: contact lab
Epidermolysis Bullosa Deletion/duplication panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 Weeks
price: contact lab
COL17A1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Epidermolysis Bullosa NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $2,500.00
Epidermolysis Bullosa NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Epidermolysis Bullosa Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
Junctional Epidermolysis Bullosa via the COL17A1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Epidermolysis Bullosa and Related Disorders Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $2,110.00
Junctional Epidermolysis Bullosa via the COL17A1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,830.00
Epidermolysis Bullosa and Related Disorders 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
Epidermolysis bullosa, junctional
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany