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Paediatric Laboratory Medicine

FISH - Microdeletion/Microduplication 22q11.2 - Cultured Fibroblasts

Clinical Significance

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

Test Name

FISH - Microdeletion/Microduplication 22q11.2 - Cultured Fibroblasts

Alternate Name/ Synonym

DiGeorge syndrome/Velocardiofacial syndrome

Gene Name

  • HIRA 22q11.2

Division

Cytogenetics

Method

Cell culture; FISH (Fluorescence in situ hybridization)

External Proficiency Testing

CAP
QMPLS

Turn Around Time

4 Weeks

Disease/Condition

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

Specimen Type

Tissue

Minimum Specimen Requirements

Minimum 2-3 mm3 fresh tissue (skin biopsy)

Storage/Transportation

Refrigerate until time of shipment. Ship sample overnight at room temperature for receipt at SickKids Cytogenetics Laboratory within 24 hours of collection.

Special Requirements

Place in sterile container with SickKids Cytogenetics transport media or other sterile culture media

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