Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Prenatal Microdeletion Panel

Prenatal Microdeletion Panel

Test Description:
MICRODELETION PANEL FISH (Fluorescence In Situ Hybridization) is offered as a screening test on direct or cultured amniocytes or chorionic villi to detect pathogenic microdeletions involved in the following syndromes: 1p36 deletion, 22q11 deletion, Angelman, Cri-du-chat, Miller-Dieker, Prader-Willi, Smith-Magenis, Williams, and Wolf-Hirschhorn.

Specimen Requirements:
Amnio: minimum total specimen size 15cc
CVS: minimum total specimen size 4 mg

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

Turnaround Time: 1-4 weeks

CPT Codes: 88235, 88271x8, 88273x8, 88291

Consent Form: Microdeletion Panel Consent [PDF]

Requisition Form: General Test Requisition [PDF]

Other Forms: Microdeletion Panel Infosheet [PDF]