Specimen

Peripheral Blood, Bone Marrow, Fibroblasts, Other Tissue

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.

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.

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.

Analytic 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: Angelman syndrome, AneuVysion 
(prenatal screening for aneuploidy), Cri-du-chat, Deletion 22q 
syndromes, Miller-Dieker syndrome, Prader-Willi syndrome, Smith-Magenis 
syndrome, SRY(Yp11.3), STS[del(Xp22.3)], Subtelomere probe panel, 
Williams syndrome, Wolf-Hirschhorn syndrome.


Cytogenetics Laboratory Web Site

Methodology:

Fluorescence In-Situ Hybridization (FISH)

CPT Code:

88230, 88271, 88273, 88365

See Additional Information:
Cytogenetics Testing