LEPRE1

OMIMHGNC

Synonym(s): GROS1, P3H1, LEPRECAN, MGC117314

Locus: 1p34.1

Protein: Prolyl 3-hydroxylase 1

 

Disorders

Tests

Test Type
Molecular (38)
Multi-Gene Panel (30)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (8)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (13)
Sequencing, Next Gen (19)
Prenatal/Carrier
Prenatal (13)
Carrier (11)
Lab Location
USA(19)
Spain(7)
Germany(7)
Portugal(2)
Poland(1)
Canada(2)
 
TAT: 4-5 weeks
price: contact lab
LEPRE1-SEQ - AR OI
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
LEPRE1-SEQ - AR OI
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
LEPRE1-SEQ - AR OI
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: $1,550.00
Osteogenesis imperfecta, type VIII
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 VIII
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: 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
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 5-6 weeks
price: contact lab
Cell culture of amniotic fluid and screening of the 50 most frequent mutations in the FGFR3, COL2A1 , SLC26A2, CRTAP, LEPRE1 and SOX9 genes
method(s): ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the LEPRE1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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 8 genes: 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: 5-6 weeks
price: contact lab
LEPRE1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Osteogenesis imperfecta Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
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
TAT: 1-2 weeks
price: $970.00
Osteogenesis imperfecta, type VIII
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
Osteogenesis Imperfecta Type 8
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
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
Osteogenesis imperfecta type VIII (sequence analysis of LEPRE1 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-5 weeks
price: contact lab
Autosomal Recessive Osteogenesis Imperfecta (OI) Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Collagen Diagnostic Laboratory - Seattle, WA, USA
TAT: 3-5 weeks
price: contact lab
Osteogenesis Imperfecta Panel
method(s): ◦ Sequencing, Next Gen 
Insight Medical Genetics, LLC - Chicago, IL, USA
Osteogenesis Imperfecta, Sequencing LEPRE1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Osteogenesis Imperfecta
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Skeletal Dysplasia Panel, Sequencing, 39 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Skeletal Dysplasia Panel, Deletion/Duplication, 36 Genes
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Skeletal dysplasia (NGS panel for 31 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Osteogenesis Imperfecta and Decreased Bone Density: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cole Carpenter Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
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: 4-6 weeks
price: contact lab
Potentially lethal skeletal disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany