Medium Chain Acyl-Coenzyme Deficiency

Medium Chain Acyl-Coenzyme Deficiency

Test Information

Titre
Medium Chain Acyl-Coenzyme Deficiency
Catégorie
Metabolic
Sub Category
Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
Gene/Platform/Region List
ACADM
Test type
Single Gene
Samples Accepted
Blood , DNA , Cultured Cells , Amniocyte , CVS
Indications
Diagnostics , Carrier Cascade Testing , Prenatal
Test Methodology
Sequencing
Methodology Notes
Direct Exon Sequencing
Disease/Condition
Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)

Dernière Mise à Jour: 24 juin 2025