Microdeletion analysis (constitutional) | FISH
| Test Details | Detects microdeletions: DiGeorge – Tuple1; Williams – ELN; Prader-Willi – SNRPN; Angelman – S10; Cri du Chat – EGR1; Wolf-Hirschhorn – WHS; Miller-Dieker – LIS1; Smith-Magenis – SMS; Steroid Sulfatase Deficiency – STS; SRY deletion – SRY/CEP X; sex chromosomes – CEP XY |
| Methodology | Fluorescence in-situ hybridization |
| Performed | Monday – Saturday |
| Turnaround | 10 – 21 days |
| Specimen requirements | Peripheral blood (PB) |
| Sample collection | Infants: 1-2mL, Children: 3-5mL, Adults: 5-10 mL; invert tube immediately after collection to prevent clots. |
| Minimum sample volume | 15 mg |
| Storage/Transport Conditions | Room temperature |
| Unacceptable Conditions | Will not be accepted after three days |
| Special Instructions | Refrigerate if sample cannot be delivered within 24 hours; Send to Rapid Response or SLCH Central Receiving |
| CPT Code(s) | 88291×1, 88235×1, 88271×2, 88273×1, 88274×1 |