|
FISH ANALYSIS:
Smith-Magenis Syndrome
Smith-Magenis syndrome is characterized by developmental delay, cognitive impairment, behavioral abnormalities, and distinct facial features. In nearly all cases, Smith-Magenis syndrome is caused by deletions of chromosome 17p11.2.
- Confirmation of a Smith-Magenis syndrome diagnosis in affected individuals
- Individuals with atypical clinical findings
FISH analysis for Smith-Magenis syndrome is performed on metaphase chromosomes to detect deletions of chromosome 17p11.2. 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
> Medical Genetics Test Requisition Form
> Standard DNA Consent Form
> Medical Genetics Specimen Transport and Shipping Information
|
