Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Williams Syndrome FISH Analysis

Williams Syndrome FISH Analysis

Test Description:
Williams syndrome, chromosome location 7q11.23, FISH (Fluorescence In Situ Hybridization) is offered for diagnosis of individuals with clinical features of Williams syndrome (intellectual disability, unique personality characteristics, cardiovascular disease, connective tissue abnormalities). 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
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]