LOR

OMIMHGNC

Locus: 1q21.3

Protein: LOR protein

 

Disorders

Tests

Test Type
Molecular (12)
Multi-Gene Panel (7)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (5)
Sequencing, Next Gen (7)
Prenatal/Carrier
Prenatal (5)
Carrier (7)
Lab Location
Spain(2)
Germany(3)
Portugal(1)
USA(5)
Poland(1)
 
TAT: 10 weeks
price: contact lab
Congenital Ichthyosis XomeDxSlice
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 2-3 weeks
price: $1,150.00
Ichthyosis NGS panel - Nonsyndromic
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,400.00
Ichthyosis Del/Dup panel - Nonsyndromic
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,400.00
Ichthyosis NGS panel - Nonsyndromic
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Vohwinkel with Ichthyosis Syndrome , Sequencing LOR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
LOR
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany
Progressive symmetric erythrokeratoderma (sequence analysis of LOR gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Ichthyoses and Related Disorders of Cornification Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
LOR
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Erythrokeratodermia Variabilis et Progressiva, Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Vohwinkel syndrome with ichthyosis
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany