5-Oxoprolinase Deficiency

Synonym(s): OPLAHD, Oxoprolinuria due to 5-Oxoprolinase Deficiency

 

OMIM

GeneLocusProtein
OPLAH8q24.35-oxoprolinase
Test Type
Molecular (1)
Multi-Method Panel (1)
Test Method
Sequencing, Capillary (Sanger) (1)
Prenatal/Carrier
Carrier (1)
Lab Location
Germany(1)


Test
TAT: 3-4 weeks
price: contact lab
5-oxoprolinase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany