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 requistion is required.

The reasons for referral listed on the submitted microarray requistion 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

Requisition

Genomic SNP Microarray -Tissue - requisition

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