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