Indications Of Williams Syndrome (Williams Beuren Syndrome, Chromosome 7)

Williams syndrome is a genetic disorder characterized by “elfin” facial features, mental retardation, growth deficiency, hypercalcemia and cardiovascular disease.

Collection Procedure

• Peripheral blood Collect whole blood in a green top tube (sodium heparin). Label tube with patient’s name and date of birth.

Specimen Requirements

FISH analysis is performed following cytogenetic analysis

Transport Temperature

Room temperature (DO NOT refrigerate, freeze or centrifuge)

A completed test requisition form must be included with every sample.  A transport kit is available upon request.

Methodology

Laboratory testing for Williams Syndrome is performed on metaphase chromosomes utilizing Fluorescence in situ hybridization targeting chromosome 7.

Causes for Rejection

Frozen specimen, inappropriate container

Turnaround Time

24-48 hrs after completion of cytogenetic analysis