Progressive Myoclonic Epilepsy Panel

Test Information

Titre
Progressive Myoclonic Epilepsy Panel
Catégorie
Neurogenetics
Test Name (CMS Title)
Progressive Myoclonic Epilepsy
Gene/Platform/Region List
ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, EPM2A, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NEU1, NHLRC1, PPT1, SCARB2, SERPINI1, SGCE, TPP1
Test type
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Sequencing + CNV
Disease/Condition
Epilepsy

Dernière Mise à Jour: 09 décembre 2025