Constitutional chromosome analysis | Classical cytogenetics

Test DetailsDetects aneuploidy, rearrangements, deletions, inversions
MethodologyChromosome analysis / karyotype
PerformedMonday – Saturday
Turnaround14 – 21 days
Specimen RequirementsPeripheral blood (PB), skin
Sample CollectionPB: Infants: 1-2mL, Children: 3-5mL, Adults: 5-10 mL; invert tube immediately after collection to prevent clots. Skin: Collect 3-4mm_ skin biopsy (about the size of a pencil eraser) and place in 50ml tube with transport media (provided by the cytogenetics lab).
Storage/Transport ConditionsRoom temperature
Unacceptable ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type
Special InstructionsRefrigerate if sample cannot be delivered within 24 hours; Send to Rapid Response or SLCH Central Receiving
CPT Code(s)88291×1, 88230×1, 88262×1, 88280×1