Genetic Test Details
FISH: Miller-Dieker syndrome
Test Information
- Titre
-
FISH: Miller-Dieker syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
-
FISH: Miller-Dieker Syndrome
- Gene/Platform/Region List
-
PAFAH1B1 (LIS1), 17p13.3
- Test type
- Cytogenetic
- Samples Accepted
- Blood , Amniocyte , CVS
- Indications
- Diagnostics , Carrier Cascade Testing , Prenatal
- Test Methodology
- FISH
- Methodology Notes
-
Metaphase FISH
- Disease/Condition
-
Miller-Dieker syndrome (Miller-Dieker syndrome, postaxial acrofacial dysostosis, POADS, Genee-Wiedemann syndrome)
Dernière Mise à Jour: 18 juin 2025