Genetic Test Details

Progressive Myoclonic Epilepsy Panel

Test Information

Titre
Progressive Myoclonic Epilepsy Panel
Catégorie
Neurogenetics
Sub Category
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
Gene Panel
Samples Accepted
DNA , Blood
Indications
Carrier Cascade Testing , Diagnosis , Prenatal
Test Methodology
Sequencing , CNV
Methodology Notes
Sequencing + CNV
Disease/Condition
Epilepsy

Dernière Mise à Jour: 18 juin 2025