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Genetic Analysis

The Genetic Analysis Facility provides microsatellite and SNP genotyping on a variety of hardware platforms. Assays are customized to each user's needs and include capabilities for genomewide linkage or association, regional localization and fine mapping, custom panels, candidate gene analysis or individual genetic markers. Complementary technologies from Illumina, Applied Biosystems, Affymetrix and Pyrosequencing are available. Although our main focus is on human and mouse genotyping, we also provide genotyping for a variety of other organisms.

The facility also supports gene expression analysis on the Illumina system. For other gene expression technologies, see the Microarray Analysis and Gene Expression Facility.

The Statistical Analysis Facility provides high-level consulting services and analytical support for projects using data either generated within TCAG, or provided by the client.

Please see our acknowledgment policy.

1. Genetic Analysis Overview

The Genetic Analysis Facility provides genotyping in support of a wide variety of genetic studies. These services include genome wide scans, fine mapping and regional localization, candidate gene analysis, marker and assay development, and mutation analysis. Human genome wide microsatellite scans are provided by the TCAG node at the Ottawa Health Research Institute (OHRI). Please contact us for information. The facility also provides gene expression analysis on the Illumina platform as well as genotyping services tailored for researchers working on transgenic mice or murine genetics. Genotype data can also be generated from other organisms.

2. Genetic Analysis Technologies

The facility generates genotype data from a variety of platforms. The platform used for each specific project is selected in accordance with project scope, cost-effectiveness, and client preference.

  • Illumina BeadStation 500G
    • GoldenGate® custom SNP panels (96 SNPs or 384 - 1,536 SNPs)
    • iSelect® custom SNP panels (6,000 to 60,800 SNPs)
    • Human genome-wide Infinium® SNP chips (1M-Duo, 610-Quad or CNV370-Quad)
    • Human and mouse linkage panels
    • Human cancer, MHC and DNA test panels
    • Human, mouse and rat whole-genome expression chips (48K and 24K)
    • Human whole-genome expression panels for degraded (eg. FFPE) RNA samples
    • Human and mouse whole-genome microRNA panels
    • NEW - High-throughput gene expression analyses for human samples - do 96 samples in one experiment for both whole-genome expression and miRNA profiling using the same RNA sample! Reduce batch effects!
    • Illumina Genotyping order form

      Illumna Gene Expression order form

      Pricing for Illumina chips

      Instructions for preparing DNA or RNA samples for Illumina experiments

  • Applied Biosystems 3730xl and 3100 capillary sequencers
    • Human genome-wide microsatellite genotyping
    • UPD testing or fine-mapping human samples using microsatellite markers. Please see our list of available markers here. Primers for other markers can be custom-ordered.
    • Electrophoresis and size-calling of microsatellite fragments from any species
    • Electrophoresis of AFLP, RFLP and t-RFLP fragments
    • Other speciality polymorphism testing (ie SLC6A4 (5-HTTLPR), DRD2 TaqI A, DRD4 exon III, MAOA)
    • SNaPshot™ multiplexed SNP genotyping
    • Microsatellite and ABI SNP genotyping order form

      Pricing for microsatellite and ABI SNP genotyping services

      Instructions for preparing DNA for fragment analysis

  • Applied Biosystems 7900HT real-time PCR system
    • TaqMan® SNP genotyping
    • Use of 7900HT instrument for gene expression experiments
  • Affymetrix GeneChip® genotyping microarrays and custom MegAllele SNP assays are supported by the Microarray Analysis and Gene Expression Facility.

The facility also provides training on various instrumentation platforms. Please contact the facility for details.

Additionally, the facility performs gene expression analysis using the Illumina system. For other gene expression technologies, see the Microarray Analysis and Gene Expression Facility.

3. Mouse Genotyping

The facility performs genotyping for the following applications:

  • Genome wide analysis using Illumina Mouse Linkage panels
  • Modifier and QTL mapping
  • Genotyping of progeny from genetic crosses
  • Transgene identification
  • Mutation analysis

A variety of technologies are employed, including microsatellite genotyping, heteroduplex analysis, PCR-RFLP and Illumina GoldenGate® genotyping. For more information, please contact us for details.

4. Genetic Analysis Pricing

All projects are custom-priced depending on the number of samples and number of markers to be employed. TCAG staff select the most cost-effective solution for each project. Please contact the facility for free initial consultation, project design assistance and a quotation.

Illumina DNA Analysis
Note: Prices shown are per sample, in Canadian dollars. Includes all reagents and processing fees.

Whole-genome Genotyping 8-24 samples 24-96 samples ≥ 96 samples
Human 1M-Duo $755 $725 $690
16-48 samples 48-96 samples ≥ 96 samples
Human Omni1-Quad $540 $515 $490
Human 660W-Quad $500 $475 $450
Linkage 48 samples ≥ 96 samples
Human Linkage-12 (6,090 SNPs) $200 $175
≥ 16 samples
Mouse Low Density Linkage panel (344 SNPs) $60
Mouse Med Density Linkage panel (1,441 SNPs) $100
Custom and Focused content SNP genotyping # SNPs # samples Price
iSelect custom genotyping panel 7,600-60,800 ≥ 1152 Please enquire
Custom SNP genotyping panels (any species) 96 or 384-1,536 ≥ 96 Please enquire
48 samples ≥ 96 samples
CVD SNP55 $200 $190
Canine SNP20 $350 $335
Bovine SNP50 $350 $335
MHC Panel (Mapping and/or Exon-centric) Please enquire
African-American admixture panel Please enquire
Cancer SNP panel Please enquire
DNA test panel Please enquire
DNA Methylation profiling 24 samples ≥ 24 samples
Human Methylation27 $375 $325
16 samples 96 samples
Methylation Cancer Panel I $105 $95
Custom methylation panel please enquire
Illumina RNA Analysis # transcripts Per sample
Human HT-12 Beadchip 48,000 $200 12 sample minimum
Human WG-6 v3 Beadchip 48,000 $305 6 sample minimum
Human Ref-8 v3 24,500 $220 8 sample minimum
Mouse WG-6 v2 Beadchip 45,200 $305 6 sample minimum
Mouse Ref-8 v2 25,600 $220 8 sample minimum
Rat Ref-12 22,000 $200 24 sample minimum
miRNA profiling
(1,135 human or 656 mouse miRNA)
Beadchip format (multiples of 12 samples) $175 12 minimum sample
5. Facility Contact

Genetic Analysis

Christian Marshall (Interm Facility Manager)

Tara Paton, Ph.D. (on maternity leave)
Genetic Analysis Facility
The Centre for Applied Genomics
The Hospital for Sick Children
MaRS Centre - East Tower
101 College Street, Room 14-601
Toronto, ON
M5G 1L7
Tel.: (416) 813-7654 ext 3579      Fax: (416) 813-8319
Email: