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.
Indications for Testing
- Confirmation of a Smith-Magenis syndrome diagnosis in affected individuals
- Individuals with atypical clinical findings
Testing Methodology
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.
Specimen Requirements
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.
Turnaround Time
8 days
CPT Codes
88230, 88271, 88273, 88291
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