Specimen:

Amniocytes, Chorionic Villi

Minimum:

Specimen obtained by referring staff physician.  Collect specimen using 
sterile technique.  DO NOT FREEZE OR CENTRIFUGE THE SPECIMEN.  Contact 
the Cytogenetics lab with questions.  Label tubes with patient name and 
medical record number.

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:

Preliminary results will be reported within two-three days and the 
final written report in five days for the aneuploidy screening.  For 
submicroscopic rearrangement, preliminary results will be reported in 
eight days and the final written report will be available in two weeks.

Reference Range:

Male:  X and Y probe signals          Female:  two X probe signals
The reference range varies for each probe (set).

Comments:

This test can be used as an adjunct to chromosomal analysis for 
aneuploidy screening on interphase nuclei and on chromosomes for 
detection of submicroscopic/cryptic rearrangements in certain 
congenital disorders.

Probes currently available include:  Aneuvysion (aneuploidy screening 
for 21,18,13,X and Y), TUPLE 1 (del 22q for CHD).  Call laboratory for 
additional information or requests.


Cytogenetics Laboratory Web Site

Methodology:

Fluorescence In-Situ Hybridization (FISH)

CPT Code:

88235, 88271 (88273), 88275, 88365

See also:
Chromosomal Analysis, Amniotic Fluid

See Additional Information:
Cytogenetics Testing