Genetic Test Details

FISH: Miller-Dieker syndrome

Test Information

Title
FISH: Miller-Dieker syndrome
Category
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)

Last Updated: June 23, 2025