Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Angelman Syndrome FISH Analysis

Angelman Syndrome FISH Analysis

Test Description:
Angelman syndrome, chromosome location 15q11.2q13, FISH (Fluorescence In Situ Hybridization) is offered for diagnosis of individuals with clinical features of Angelman syndrome (severe intellectual disability, severe speech impairment, seizures). The detection rate of FISH analysis for this disorder is approximately 70%.

Specimen Requirements:
Whole blood in sodium heparin (green top) tube: minimum 5-10 ml.
This test can also be performed on prenatal specimens; see test "Prenatal Microdeletion FISH Panel"

Shipping: Ship at room temperature.

Turnaround Time: 7-10 days

CPT Codes: 88230, 88271x2, 88274, 88291

Consent Form: Postnatal Consent [PDF]

Requisition Form: General Test Requisition [PDF]