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 5-15 ml. Collect whole blood in a green top tube (sodium heparin). Label tube with patient’s name and date of birth.
A completed test requisition form must be included with every sample. A transport kit is available upon request.
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