DSG4

OMIMHGNC

Synonym(s): CDHF13, LAH

Locus: 18q12.1

Protein: Desmoglein-4

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (5)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (1)
Carrier (4)
Lab Location
Portugal(1)
USA(2)
Poland(1)
Germany(2)
Finland(1)
Spain(1)
 
TAT: 10-12 weeks
price: contact lab
XomeDxSlice EB
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
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
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair)
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Hypotrichosis simplex, type 6 (sequence analysis of DSG4 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
DSG4
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Epidermolysis Bullosa Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hypotrichosis type 6
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Hypotricosis, Panel Massive Sequencing (NGS) 8 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain