DSG4
Synonym(s): CDHF13, LAH
Locus: 18q12.1
Protein: Desmoglein-4
Disorders
Tests
| 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 |
| DSG4 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
| 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 |
| Nonsyndromic hypotrichosis panel method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
| Epidermolysis Bullosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
| Epidermolysis Bullosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |