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Paediatric Laboratory Medicine

FISH - Microdeletion/Microduplication 22q11.2 - Peripheral Blood

Clinical Significance

OMIM 188400 - DiGeorge sydnrome
OMIM 608363 - Chromosome 22q11.2 duplication syndrome

Test Name

FISH - Microdeletion/Microduplication 22q11.2 - Peripheral Blood

Alternate Name/ Synonym

DiGeorge syndrome/Velocardiofacial syndrome

Gene Name

  • HIRA 22q11.2

Division

Cytogenetics

Method

3 day PHA-stimulated thymidine-synchronized culture; FISH (Fluorescence in situ hybridization)

External Proficiency Testing

CAP
QMPLS

Disease/Condition

Microdeletion 22q11.2
Chromosome 22q11.2 duplication syndrome

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