Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Williams Syndrome

Williams Syndrome

Test Description:
Williams syndrome 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

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