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 , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , 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