FISH: Miller-Dieker syndrome

Test Information

Title
FISH: Miller-Dieker syndrome
Lab
Category
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Miller-Dieker Syndrome
Gene/Platform/Region List
PAFAH1B1 (LIS1), 17p13.3
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
FISH
Methodology Notes
Metaphase FISH
Disease/Condition
Miller-Dieker syndrome (Miller-Dieker syndrome, postaxial acrofacial dysostosis, POADS, Genee-Wiedemann syndrome)

Last Updated: November 14, 2025

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