Fluorescence In-Situ Hybridization (FISH-Microdeletion)

Downtime form:

Shivanand R. Patil Cytogenetics & Molecular Laboratory
Department 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.

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. After hours specimens should be taken to Specimen Control. For questions after hours, call (319) 356-1616 and ask the operator to page the cytogenetics on-call staff at pager #5525.

Testing Schedule:

Specimens accepted in the lab Monday-Friday, 0800-1700.

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:

Epic code: CYT54

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
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