UROC1

OMIMHGNC

Synonym(s): FLJ31300, HMFN0320

Locus: 3q21.3

Protein: Urocanate hydratase

 

Disorders

Tests

Test Type
Molecular (5)
Multi-Gene Panel (2)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (1)
Carrier (2)
Lab Location
USA(3)
Portugal(1)
Germany(1)
 
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Urocanase deficiency (sequence analysis of UROC1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
UROC1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Urocanase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany