Constitutional chromosomal microarray analysis | CMA

Test DetailsThermoFisher CytoScan HD assay with genomic DNA extraction to detect small gains and losses across the entire genome. A genomic imbalance is always reported when deletions are greater than 200 kb and duplications are greater than 500 kb, unless they represent a region clearly associated with benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are greater than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported, unless they involve regions of the genome with established clinical significance.
MethodologyChromosomal microarray analysis
PerformedMonday – Friday
Turnaround21 – 28 days
Specimen RequirementsPeripheral blood (PB), fibroblasts, buccal swabs
Sample CollectionPB: 2 tubes of peripheral blood (EDTA and NaHeparin). Fibroblasts: 2-T25 flasks of cultured fibroblasts; or fresh fibroblast biopsy. Flasks should be confluent or nearly confluent prior to testing; transport with adequate media; fresh tissue will require cell culture prior to CMA study.  Buccal swab kits available upon request (please contact lab).
Storage/Transport ConditionsRoom temperature
Unacceptable ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type, paraffin samples
Special InstructionsIf patient has had a recent blood transfusion with leukocytes, it is recommended to wait at least 2 weeks after the transfusion date (packed RBC ok)
Refrigerate if sample cannot be delivered within 24 hours;
Send to Clinical Support Office (509 S. Euclid Ave., Room 4711 between 8 a.m. and 5 p.m.)
After hours, please send to IOH Core Lab (425 S. Euclid, Room 4701)
CPT Code(s)81229×1; Optional reflex karyotype available if microarray is normal: if requested add CPT codes 88230, 88291, 88262 and 88280 (all x 1)