Genomic SNP Microarray - Blood

Alternate test 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: 2-3 weeks Routine: 4-6 weeks

Specimen type

Peripheral blood

Genomic DNA

Specimen requirements

1-3 mL (0.5 mL) minimum for neonates; 6 mL for adults

DNA; 1µg at ≥50ng/µl minimum from an accredited laboratory

Storage and transportation

Maintain at room temperature. Do not refrigerate or freeze.

Please note: A completed SickKids Genomic 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.

Special requirements

Collect in EDTA tube

DNA; 1µg at ≥50ng/µl minimum from an accredited laboratory

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

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 multiple congenital anomalies