Genomic SNP Microarray -Tissue

Alternate test name

Gene name / Alternate gene name

Lab area

Genome Diagnostics - Cytogenetics

Method and equipment

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

Expected turn-around time

Newborns and expedited cases: 2 weeks Routine: 4 weeks

Specimen type

Cultured Fibroblasts

Specimen requirements

2xT25 confluent flasks at room temperature

Storage and transportation

Room temperature. Deliver to Laboratory as soon as possible.

Please Note: A completed SickKids Geneomic SNP Microarray requisition is required for external requests.

The reasons for referral listed on the submitted microarray requisition MUST meet the indications authorized by the MOHLTC, which include developmental delay/intellectual disability and/or multiple congenital anomalies.

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200 ext. 2

Hours: Monday to Friday, 8 a.m. to 4:30 p.m.

Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642

Email Molecular Lab: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Background and 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.

Disease condition

Developmental delay and or congenital anomalies