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Paediatric Laboratory Medicine

FISH - Chromosome Enumeration - Peripheral Blood

Clinical Significance

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

Test Name

FISH - Chromosome Enumeration - Peripheral Blood

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 blood, 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

Peripheral blood

Minimum Specimen Requirements

Blood at room temperature in sodium heparin
Volume: 0-3 months  1-3 mL
                3 months-12 years: 3-6 mL
                12 years - adult: 6 mL

Storage/Transportation

Maintain at room temperature. Do not refrigerate or freeze.

Special Requirements

Collect in sodium heparin tube

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