Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Miller Dieker Syndrome

Miller Dieker Syndrome

Test Description:
Miller-Dieker syndrome FISH (Fluorescence In Situ Hybridization) is offered for diagnosis of individuals with clinical features of Miller-Dieker syndrome (lissencephaly, mental retardation, neurological complications). The detection rate of FISH analysis for this disorder is approximately 99%.

Specimen Requirements:
Whole blood in sodium heparin (green top) tube, minimum 5-10 ml

Shipping: Samples should be received on day of collection. Keep specimens at room temperature.

Turnaround Time: 7-10 days

CPT Codes: 88230, 88271x2, 88274, 88291

Consent Form: Peripheral Blood Chromosomes and FISH Consent [PDF]

Requisition Form: General Test Requisition [PDF]

Related Tests: Prenatal Microdeletion FISH Panel