UMPS

OMIMHGNC

Locus: 3q21.2

Protein: Orotate phosphoribosyltransferase

 

Disorders

Tests

Test Type
Molecular (7)
Multi-Gene Panel (1)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (5)
Sequencing, Next Gen (2)
Prenatal/Carrier
Prenatal (3)
Carrier (4)
Lab Location
Spain(1)
Portugal(1)
USA(4)
Germany(1)
 
Hereditary Orotic Aciduria, Sequencing UMPS Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Orotic aciduria (sequence analysis of UMPS gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-5 Weeks
price: contact lab
UMPS
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $690.00
Orotic Aciduria via the UMPS Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $750.00
Orotic Aciduria via the UMPS Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Orotic aciduria
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany