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Details of Pathology Test

Item Details
Laboratory Queensland Medical Laboratory Pathology : Genetics - QLD
Test Name Miller-Dieker / Lissencephaly Syndrome
Genes Tested PAFAH1B1
Test Description Test for deletions of the PAFAH1B1 (LIS1) gene at 17p13.3
Method FISH
Test Type Cytogenetic
Comment Incorporated into karyotyping studies
Test Accreditation Included In NATA Scope
Clinical Context Heritable variants
Sample Required 4ml Lithium Heparin
Turn Around Time 4 months
Medicare Rebate MBS rebate may be available
Pathology Test Last Edit Date 03/07/2017 11:40:46 AM