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Paediatric Laboratory Medicine

Genomic SNP Microarray - Cultured Fibroblasts

Clinical Significance

Microarray analysis is  performed on cultured fibroblasts only if peripheral blood is unavailable, or if mosaicism is suspected.

Approximately 10-20% of individuals with unexplained developmental delay or multiple congenital anomalies will have a CNV considered to be clinically relevant.

Test Name

Genomic SNP Microarray - Cultured Fibroblasts

Alternate Name/ Synonym

Array Comparative Genomic Hybridization

Gene Name

Genome-wide

Division

Cytogenetics

Method

DNA extraction; Genomic Microarray Platform - Cytoscan HD SNP Array (Affymetrix)

External Proficiency Testing

CAP
QMPLS

Turn Around Time

4 weeks

Disease/Condition

Developmental delay and or congenital anomalies

Specimen Type

Cultured Fibroblasts

Minimum Specimen Requirements

2xT25 confluent flasks at room temperature

Storage/Transportation

Room temperature. Deliver to Laboratory as soon as possible.

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