DSE

OMIMHGNC

Synonym(s): DSEPI, DS-Epi1, SART2

Locus: 6q22.1

Protein: Dermatan-sulfate epimerase

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (5)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (1)
Carrier (2)
Lab Location
USA(2)
Portugal(2)
Germany(3)
Austria(1)
 
Ehlers Danlos syndrome
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 4-6 weeks
price: contact lab
Connective tissue diseases: Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
DSE
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Ehlers-Danlos syndrome, musculocontractural type 2 (sequence analysis of DSE gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (NGS panel of 44 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Ehlers-Danlos syndrome (Ehlers-Danlos Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Ehlers-Danlos syndrome, musculocontractural type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-6 weeks
price: contact lab
Atypical Ehlers-Danlos Syndrome Spotlight Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA