P4HB

OMIMHGNC

Synonym(s): PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta, PO4DB, ERBA2L

Locus: 17q25.3

Protein: Protein disulfide-isomerase

 

Disorders

Tests

Test Type
Molecular (16)
Multi-Gene Panel (12)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (10)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (13)
Carrier (6)
Lab Location
USA(13)
Germany(3)
 
TAT: 2-3 weeks
price: $990.00
Osteogenesis imperfecta NGS panel - Dominant
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: 2-4 weeks
price: $1,290.00
Osteogenesis imperfecta NGS panel - Dominant
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
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: 2-3 weeks
price: $990.00
Cole-Carpenter syndrome 1 (CLCRP1)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Cole-Carpenter syndrome 1 (CLCRP1)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
Cole Carpenter Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 2-3 weeks
price: $1,570.00
Cole-Carpenter syndrome 1 (CLCRP1)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-5 Weeks
price: contact lab
P4HB
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, 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: 2-4 weeks
price: $2,130.00
Osteogenesis imperfecta NGS panel - Dominant Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,100.00
Cole-Carpenter syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $750.00
Cole-Carpenter syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,750.00
Cole-Carpenter syndrome NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 9-10 weeks
price: contact lab
CentoMitoâ„¢ Comprehensive
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Osteogenesis Imperfecta and Osteoporosis - different panels
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Cologne University, Institute of Human Genetics - Cologne, Germany