Genetic Test Details

Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia

Test Information

Titre
Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia
Catégorie
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
PCCA, PCCB
Test type
Gene Panel
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
Propionic acidemia, propionyl-CoA carboxylase deficiency

Dernière Mise à Jour: 18 juin 2025