Microdeletion analysis (constitutional) | FISH
| Test Details | Detects microdeletions: DiGeorge – HIRA (Tuple1) 22q11.2; Prader-Willi – SNRPN 15q11-q13; SRY deletion or sex chromosome aneuploidies/mosaicism – SRY/CEP X/CEP Y |
| 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 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, 88235×1, 88271×3, 88275×2, 88273×1, 88274×1 |