Lab Test : Parental Studies, Microarray CGH / FISH

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Alternate:array, CGH, fluroescence in situ hybridization, FISH
Includes:microarray CGH and/or FISH
Department:Cytogenetics / Molecular Genetics Laboratories
Phone:(937) 641-3801; On Call Pager (937) 334-0192
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:30 days
Volume:2-5mL each tube below; 1mL each tube below for newborns
Container:one sodium heparin tube (or heparinized syringe) AND one EDTA tube; NOT ACCEPTABLE - microtainers with serum separators, lithium heparin tubes; DO NOT CENTRIFUGE
Temperature:room temperature for not more than 24 hours; can be stored at 4 degrees C for 1 week
Rejection:MUST INCLUDE INDICATION WHEN ORDERING; will attempt to process any volume of specimen received; will attempt to process clotted specimens; outcome may not be ideal
Normal:Male: arr(1-22)x2,(XY)x1
Female: arr(1-22,X)x2
FISH varies
Uses:Used to identify whether or not a parent has their child's aberration(s) and to clarify unknown variants as pathogenic or likely benign
Limitations:Aberrations less than 100,000 bases are not detectable; only detects copy number variations (del/dups)
Method:Agilent 180k and/or fluorescence in situ hybridization

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