GJB4

OMIMHGNC

Synonym(s): CX30.3

Locus: 1p34.3

Protein: Gap junction beta-4 protein

 

Disorders

Tests

Test Type
Molecular (15)
Multi-Gene Panel (10)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (6)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (4)
Carrier (8)
Lab Location
Germany(3)
Spain(3)
Portugal(1)
USA(7)
Poland(1)
 
GJB4-Related Erythrokeratodermia Variabilis Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 4-5 weeks
price: contact lab
Connexin Gene Testing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
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
Erythrokeratodermia Variabilis (Type Mendes da Costa), Sequencing GJB4 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
Congenital Ichthyosis, Panel Massive Sequencing (NGS) 33 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Erythrokeratodermia variabilis, Mendes da Costa type (sequence analysis of GJB4 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
GJB4
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: 4 weeks
price: $1,245.00
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel
method(s): ◦ Sequencing, Next Gen 
Otogenetics Corporation - Atlanta, GA, USA
TAT: ~2 weeks
price: contact lab
Erythrokeratodermia variabilis et progressive
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany