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Paediatric Laboratory Medicine

FISH - Chromosome Enumeration - Paraffin Sections

Clinical Significance

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

Test Name

FISH - Chromosome Enumeration - Paraffin Sections

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

In situ paraffin 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

Tissue paraffin sections

Minimum Specimen Requirements

Minimum of two 4 micron slides

Storage/Transportation

Room temperature

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