LBR

OMIMHGNC

Synonym(s): DHCR14B, TDRD18

Locus: 1q42.12

Protein: Lamin-B receptor

 

Disorders

Tests

Test Type
Molecular (33)
Multi-Gene Panel (26)
Multi-Method Panel (13)
Test Method
Del/Dup (CNV) (15)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (25)
Prenatal/Carrier
Prenatal (16)
Carrier (20)
Lab Location
Spain(3)
Portugal(2)
Germany(6)
USA(19)
Poland(1)
Finland(2)
 
TAT: 2-3 weeks
price: $1,150.00
Skeletal Dysplasia extended NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,300.00
Skeletal Dysplasia core and extended NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 7 genes: AGPS, ARSE, EBP, GNPAT, IMPAD1, LBR, PEX7.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-6 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-4 weeks
price: $1,840.00
Skeletal Dysplasia core and extended NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,490.00
Skeletal Dysplasia extended NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
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
TAT: 8-10 weeks
price: contact lab
NGS Non-immune Hydrops Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 2-4 weeks
price: $1,490.00
Skeletal Dysplasia Extended NGS Panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,370.00
Chondrodysplasia punctata and related disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Chondrodysplasia punctata and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, 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
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 (NGS panel for 31 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Greenberg dysplasia (sequence analysis of LBR gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing LBR
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: $2,210.00
Chondrodysplasia punctata and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Chondrodysplasia punctata 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
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Skeletal Dysplasias, Panel Massive Sequencing (NGS) 36 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Chondrodysplasia Punctata, Panel Massive Sequencing (NGS) 7 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability 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
LBR
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $2,990.00
Skeletal Dysplasia core and extended 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
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Chondrodysplasia Punctata Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via the LBR Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $870.00
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via the LBR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Pelger-Huet anomaly
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Greenberg skeletal dysplasia
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany