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Smith-Magenis Syndrome deletion 17p11.2 by FISH*

Test Code

F SMS*

Test Synonyms

del(17)(p11.2), RAI1 gene, microdeletion syndrome

Associations

Deletion of chromosome 17p11.2

Methodology

Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory

Turnaround Time

5-7 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood sodium heparin

Specimen Stability
Stable at 4-25°C for 72 hours
Storage & Handling

Protect from extreme temperature. Ship with cool pack (refrigerated). Saturday for Monday delivery only if sample is protected from extreme temperature.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

See report

It is recommended that all FISH studies be done in conjunction with routine cytogenetic studies. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities.

References
  1. Elsea SH, Girirajan S. (2008). Smith-Magenis syndrome Eur J Hum Genet. 16(4):412-21.
  2. Gropman AL et al. (2007). New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 20(2):125-34.