Lab Test : Microarray, SNP + Copy Number

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Alternate:Array, Chromosomal Microarray, SNP, CMA
Department:Genetics Laboratory
Phone:(937) 641-3801; (937) 641-3262; On-call pager (937) 334-0192
SQ Code:MASNPB
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
Specimen:Blood
Volume:2-5mL; 1mL for newborns
Container:EDTA tube preferred
Sodium heparin tube acceptable
Temperature:Room temperature 24 hours; 4 degrees C if more than 24 hours
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,(X,Y)x1
Female: arr(1-22,X)x2
Uses:Indications: developmental delay, intellectual disability, congenital anomalies, dysmorphic features
Limitations:Balanced rearrangements are not detected; Losses less than 25kb and 25 markers are not detected; Gains less than 50kb and 50 markers are not detected; Mosaic copy number less than 20% may not be reliably detected, and detection sensitivity is affected by the size of the CNV; Absence of heterozygosity has a filter setting of 3Mb
Method:CytoScan Dx Assay, FDA-approved
 

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