3-Hydroxyisobutryl-CoA Hydrolase Deficiency

Synonym(s): Beta-Hydroxyisobutyryl CoA Deacylase Deficiency, HIBCH Deficiency, Methacrylic Aciduria

 

OMIM

GeneLocusProtein
HIBCH2q32.23-hydroxyisobutyryl-CoA hydrolase, mitochondrial
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
3-hydroxyisobutryl-CoA hydrolase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany