UVSSA

OMIMHGNC

Synonym(s): KIAA1530

Locus: 4p16.3

Protein: UV-stimulated scaffold protein A

 

Disorders

Tests

Test Type
Molecular (3)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (1)
Prenatal/Carrier
Carrier (1)
Lab Location
Portugal(1)
USA(1)
Germany(1)
 
UV-sensitive syndrome 3 (sequence analysis of UVSSA gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
UVSSA
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
UV-sensitive syndrome type 3
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany