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FISH ANALYSIS, SMITH-MAGENIS SYNDROME
Chromosomal Locus: 17p11.2
Pseudonyms: Smith Magenis syndrome, 17p11.2 deletion, RAI1 gene deletion
TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY: Fluorescence in situ hybridization
SPECIMEN REQUIREMENTS:
- Collect: 3-5 mL peripheral blood in sodium heparin (green) for children and adults; 1-2 mL peripheral blood in sodium heparin (green) for newborns
- Min. Collection: 1 mL for newborns; 2 mL for children and adults
- Transport: peripheral blood in sodium heparin (green) at 20-25°C
- Stability: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: unacceptable
- Unacceptable Conditions: Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.
INTERPRETIVE DATA:
Test Summary: Test can detect microdeletions of the Smith-Magenis syndrome critical region in 17p11.2. Approximately 95% of patients with Smith-Magenis syndrome have deletions detectable by FISH.
Related Tests: Chromosome Analysis, High Resolution
Methods: A dual-color FISH analysis performed on metaphase cells using probes for Smith-Magenis critical region in 17p11.2 and a chromosome 17 control probe; analysis of 10 metaphase cells and 20 interphase cells
Indications for Use:
- Patients suspected of having Smith-Magenis syndrome on the basis of clinical findings such as facial dysmorphology, brachycephaly, delayed speech and motor development, self-injurious behavior and sleep disturbances
- Patients with a possible deletion of chromosome 17p by standard chromosome analysis
ADDITIONAL RESOURCES:
OMIM - www.omim.org/entry/182290
Genetics Home Reference - www.ghr.nlm.nih.gov/condition/smith-magenis-syndrome
GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1310/