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, Amniocyte, CVS, DNA, Cultured Cells
Indications
Diagnosis, Carrier Cascade Testing, Prenatal
Test Methodology
FISH
Disease/Condition

Miller-Dieker syndrome (Miller-Dieker syndrome, postaxial acrofacial dysostosis, POADS, Genee-Wiedemann syndrome)

Last Updated: January 06, 2026