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 Collect blood in a sodium heparin (green-top) Vacutainer. Invert tube immediately upon completion of blood collection to prevent formation of clots. |
| 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) or RPMI. |
| 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 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) | 88291×1, 88230×1, 88262×1, 88280×1 (PB) 88291×1, 88233×1, 88262×1, 88280×1 (Skin) |