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FISH ANALYSIS:
Williams Syndrome (Elastin)
Williams syndrome is characterized by cardiovascular disease, mental retardation, growth abnormalities, and distinctive faces. Individuals with Williams syndrome have deletions of chromosome 7q11.23.
- Confirmation of a Williams syndrome diagnosis in affected individuals
- Individuals with atypical clinical findings
FISH analysis for Williams syndrome is performed on metaphase chromosomes to detect deletions of chromosome 7q11.23. Over 95% of individuals with Williams syndrome have a contiguous gene deletion involving the Williams syndrome critical region and the elastin gene which is detectable with this analysis. If not previously performed, chromosomal analysis is recommended in addition to the FISH study.
Blood: For adults and children, 3 – 5 cc collected in a sodium heparin (green top) vacutainer tube. For newborns, 2 cc is sufficient. Do not centrifuge or freeze. Store sample at room temperature.
8 days
88230, 88271, 88273, 88291
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