Fluorescence In-Situ Hybridization (FISH-Microdeletion)
Epic Lab Code: CYT54
Downtime Form: C-12 Cytogenetics Request
Shivanand R. Patil Cytogenetics & Molecular Laboratory (Dept. of Pediatrics)
W-101 GH
356-3877 (Laboratory)
Specimen(s):
Peripheral Blood, Fibroblasts, Other Tissue (fibroblasts, and OT need to establish cultures first, not going to meet 5-7 day TAT)
Specimen Instructions:
Provide details of clinical information. If a specimen is collected over the weekend, please page the technologist on call by dialing 1-888-533-0186. When it stops ringing, enter your phone number, the '#' sign, and hang up.
Collection Medium:
Green top tube 10 mL (Na Heparin) Hospital Stores #907693
Minimum:
5-10 cc adult, 2 cc infants of venous blood collected in a green-top Vacutainer® with sodium heparin. Invert tube to mix well. Label the tube with patient name and medical record number. DO NOT FREEZE OR CENTRIFUGE.
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection.
Testing Schedule:
Specimens accepted in the lab Monday-Friday, 0800-1700. After hours specimens should be taken to specimen control and a message left on the lab voice mail. In the case of an emergency, follow the instructions on the lab voice mail.
Turn Around Time:
Allow 5-7 days for final results.
Reference Range:
Varies for each probe (set). Unique sequence probes labeled with fluorochrome. Contact lab for details.
Comments:
This test can be used as an adjunct to chromosomal analysis for detection of submicroscopic/cryptic rearrangements in certain congenital disorders. Suitable for metaphase analysis only.

Probes currently available include:
1p36
Angelman syndrome
AneuVysion (prenatal screening for aneuploidy)
Cri-du-chat
Deletion 22q syndromes
Langergied
Miller-Dieker syndrome
Prader-Willi syndrome
Smith-Magenis syndrome
SRY(Yp11.3)
STS[del(Xp22.3)]
Williams syndrome
Wolf-Hirschhorn syndrome

Shivanand R. Patil Cytogenetics & Molecular Laboratory Website
Methodology:
Fluorescence In-Situ Hybridization (FISH)
CPT Code:
88271 x # of probes
88273 x # of probes, 88291
 
See Additional Information:
Cytogenetics and Molecular Testing