Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

FISH - Chromosome Enumeration - Buccal Swab

Clinical Significance

Trisomies 13, 18, and 21, and 45,X, are the common viable aneuploidiy syndromes.

Test Name

FISH - Chromosome Enumeration - Buccal Swab

Alternate Name/ Synonym

Aneuploidy screen

Gene Name

  • Centromeres X, Y and 18, chromosomes 13 (FKHR @ 13q14), and 21 and( LSI 21 @ 21q22)

Division

Cytogenetics

Method

Uncultured cells, direct harvest; FISH (Fluorescence in situ hybridization)

External Proficiency Testing

CAP
QMPLS

Turn Around Time

4 weeks for routine
5-9 working days for expedite

Disease/Condition

Trisomy 13
Trisomy 18
Trisomy 21
45,X

Specimen Type

Buccal Cells

Storage/Transportation

Maintain at room temperature. Do not refrigerate or freeze.

Special Requirements

Sterile brush and PBS kit will be provided by laboratory. Contact laboratory for instructions.

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Provided