Lab Test : FISH, Smith-Magenis Syndrome

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Alternate:fluroescence in situ hybridization, microdeletion
Includes:17p11.2 deletion FISH
Department:Cytogenetics Laboratory
Phone:(937) 641-3801; On Call Pager (937) 334-0192
SQ Code:FISHMD - specify Smith-Magenis when ordering
Available:Lab open Mon - Fri 9:00AM - 5:00PM. On Call hours are 5:00PM Friday through 10:00PM Sunday and holidays; specimens accepted in the main lab daily
Turnaround:7 days
Specimen:Blood
Volume:1-3mL; 1mL for newborns
Container:sodium heparin or heparinized syringe; NOT ACCEPTABLE - microtainers with serum separators, lithium heparin tubes; DO NOT CENTRIFUGE
Temperature:room temperature 24 hours; 4 degrees C acceptable if shipping next day
Rejection:will attempt to process any volume of specimen received; will attempt to process clotted specimens; outcome may not be ideal
Normal:17p11.2(RAI1x2)
Uses:to detect Smith-Magenis syndrome
Limitations:will not detect other mutations or deletions
Method:fluorescence in situ hybridization
 

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