COL1A2

OMIMHGNC

Synonym(s): OI4

Locus: 7q21.3

Protein: Mutant collagen alpha 2

 

Disorders

Filter By:

Test Type
Molecular
Panel
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Entire Coding Region
Sequencing, Capillary (Sanger)
Sequencing, Next Gen
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Germany
Korea, Republic of
Poland
Spain
USA

Tests

Test
TAT: 4-6 weeks
price: contact lab
Amelogenesis Imperfecta NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
COL1A1/2 Related Disorders Panel (MitomeNGS)
method(s): ◦ Sequencing, Next Gen 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
COL1A1/2-Related Osteogenesis Imperfecta
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: ~2 weeks
price: contact lab
COL1A1/2-Related Osteogenesis Imperfecta Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Tulane University Medical School - New Orleans, LA, USA
TAT: 4-5 weeks
price: contact lab
COL1A2 Deletion/Duplication Analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
COL1A2 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 5-6 weeks
price: contact lab
COL1A2 Gene Sequencing
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
COL1A2 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
COL1A2 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
COL1A2 Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Connective Tissue Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 12-13 weeks
price: contact lab
Connective Tissue Disorders: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Connective Tissue NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 weeks
price: contact lab
Detection of large deletions and/or duplications in the COL1A2 gene by MLPA
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Ehlers Danlos syndrome
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4 weeks
price: contact lab
Ehlers-Danlos syndrome Del/Dup panel - Dominant
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Ehlers-Danlos syndrome Del/Dup panel - Dominant and Recessive
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Ehlers-Danlos syndrome NGS panel - Dominant
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Ehlers-Danlos syndrome NGS panel - Dominant and Recessive
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Ehlers-Danlos syndrome NGS panel Comprehensive Test - Dominant
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Ehlers-Danlos syndrome NGS panel Comprehensive Test - Dominant and Recessive
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Ehlers-Danlos Syndrome, Arthrochalasia Type (EDS VIIA/VIIB)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: 2-4 weeks
price: contact lab
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2 weeks
price: contact lab
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 10 genes: COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1, 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 2 genes: COL1A1, COL1A2
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 3 genes: ANO5, COL1A1, COL1A2.
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 6 genes: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB.
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: ADAMTS2, CHST14, CBS, COL1A2, PLOD1, SLC39A13, TNXB, ZNF469.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: ~2 weeks
price: contact lab
Osteogenesis Imperfecta
method(s): ◦ Sequencing, Capillary (Sanger) 
Tulane University Medical School - New Orleans, LA, USA
Osteogenesis Imperfecta , Deletions-Duplications (MLPA) COL1A2 Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Reference Laboratory Genetics - Barcelona, Spain
Osteogenesis Imperfecta , Panel massive Sequencing (NGS) (COL1A1,COL1A2) Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 10 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Osteogenesis Imperfecta , Sequencing COL1A2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 12-13 weeks
price: contact lab
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4 weeks
price: contact lab
Osteogenesis imperfecta Del/Dup panel - Dominant
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Osteogenesis imperfecta Del/Dup panel - Dominant and Recessive
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
Osteogenesis imperfecta Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 4 weeks
price: contact lab
Osteogenesis imperfecta NGS panel - Dominant
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Osteogenesis imperfecta NGS panel - Dominant and Recessive
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Osteogenesis imperfecta NGS panel Comprehensive Test - Dominant
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Osteogenesis imperfecta NGS panel Comprehensive Test - Dominant and Recessive
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Osteogenesis Imperfecta test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Osteogenesis Imperfecta Type 1-4
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Osteogenesis Imperfecta, Panel massive Sequencing (NGS) (COL1A1,COL1A2,CRTAP,LEPRE1) Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 2-4 weeks
price: contact lab
Osteogenesis imperfecta, types I, II, III and IV
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Osteogenesis imperfecta, types I, II, III and IV
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2 weeks
price: contact lab
Osteogenesis imperfecta, types I, II, III and IV
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Osteogenesis imperfecta, types I, II, III and IV (COL1A2)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Osteogenesis imperfecta, types I, II, III and IV (COL1A2)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2 weeks
price: contact lab
Osteogenesis imperfecta, types I, II, III and IV (COL1A2)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Skeletal Dysplasia core and extended Del/Dup panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Skeletal Dysplasia core and extended NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Skeletal Dysplasia core and extended NGS panel Comprehensive Test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Skeletal Dysplasia core Del/Dup panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Skeletal Dysplasia core NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Skeletal Dysplasia core NGS panel Comprehensive Test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
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
Skin Diseases
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center (Centrum Badań DNA sp z o.o.) - Poznań, Poland