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