Constitutional chromosome analysis | Classical cytogenetics

Test Details Detects aneuploidy, rearrangements, deletions, inversions
Methodology Chromosome analysis / karyotype
Performed Monday – Saturday
Turnaround 14 – 21 days
Specimen Requirements Peripheral blood (PB), skin
Sample Collection PB: 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 Conditions Room temperature
Unacceptable Conditions Frozen specimens, clotted or hemolyzed specimens, inappropriate tube type
Special Instructions Refrigerate 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