Molecular Genetics

Molecular Genetics

Garvan's Genetics Core Facility was established in 2004 through a donation from the Australian Cancer Research Foundation (ACRF). It was designed to facilitate the search for cancer susceptibility genes and has developed into Garvan Molecular Genetics, the Institute’s core facility for high throughput services covering the areas of Capillary Sequencing, Mouse Genotyping, SNP Genotyping, Clinical Diagnostic Sequencing, Cell Line Identification, Gene Expression Analysis and DNA/RNA extraction.

A diversity of platforms is available within Garvan Molecular Genetics to enable research within Garvan and the wider St Vincent's Hospital precinct, as well as external clients. The goals of the facility are aimed at providing high-throughput, sensitive, accurate and cost effective services, which include the following:




Accreditation No: 18464 (category S)


NATA accreditation according to standard ISO 17025 (biological) and ISO 15189 (clinical)

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Sanger Sequencing and Fragment Analysis 

Our Sanger Sequencing Service is NATA ISO 17025 and ISO15189 certified and we can therefore accept clinical samples for capillary sequencing. We offer several Sanger sequencing modules for this sequencing service. We can design primers, PCR amplify genes or exons and Sanger sequence the PCR product for you. Or we take the analysis through to a clinical report signed by a genetic pathologist. You choose the level of service you need. Alternatively, you can just submit premixed DNA and primer samples using our cost effective premix module which is competitive with international Sanger sequencing service providers both in price and quality. We employ the latest state of Sanger sequencing instrumentation and achieve average read-lengths of 1000+ Basepairs. Our Sanger Sequencing Service staff has many years of experience and can help in primer design, data interpretation or troubleshooting difficult templates. Services include:

  • Standard Capillary Sequencing & Fragment Analysis
  • Microsatellite Analysis
  • NGS cross validation sequencing
  • PCR product, plasmid, genomic DNA, SNPs


Clinical Diagnostic Sequencing Service

We accept clinical samples for level 1 confirmatory Sanger Sequencing and / or Human Copy Number Analysis. This service is NATA ISO 15189 certified. Please find more information here.


Mouse Genotyping 

Our mouse genotyping service was established in 2007 and since then has developed into a national provider for high-throughput mouse genotyping. DNA is extracted via high throughput robotic platforms. PCR is set-up with in-house developed programming software that controls automatic liquid handling stations. Results are generated using High Resolution Meltcurve (HRM) Analysis and quantitative PCR data. This service is accredited against NATA ISO 17025 standard providing reliable results with cost effective technology in a quality controlled environment. Our mouse genotyping service is used by clients from numerous universities and research facilities around Australia and we have special expertise in copy number analysis and SNP detection.  The Mouse Genotyping Service include:

  • High-throughput Meltcurve Genotyping
  • Copy number analysis for heterozygous-homozygous differentiation
  • Parasite Testing
  • Routine SNP Genotyping for genetic monitoring of mouse inbred strains


Cell Line Identification

As per new requirements for acceptance of research publications in peer-reviewed journals, as well as the need to exclude misidentified or cross-contaminated cell lines from research, we offer a microsatellite based cell line identification service.  The technology is built on the Powerplex 18D kit which uses the following 18 markers (seventeen STR loci and Amelogenin): D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, Amelogenin, vWA, D8S1179, TPOX, FGA, D19S433 and D2S1338. We have also developed a microsatellite based mouse cell line test based on 18 mouse markers. 

Identification and re-identifiaction is achieved by comparison to reference samples via Garvan’s cell-line identification database. An analysis certificate is provided. We also test for mycoplasma via PCR.This service is accredited against NATA ISO 17025 standard.


DNA & RNA Extraction and Quantification

We offer a high-throughput DNA & RNA and extraction service, which provides you with column-cleaned DNA or RNA ready for even sensitive downstream applications.  This service  operates in a NATA ISO 15189 quality controlled environment.


Technology Platforms

DNA and RNA analysis with the Tapestation420 system, DNA and RNA extraction with the Chemagic 360, Liquid Handling with Janus systems and EPmotions (5070 and 5075), Sanger Sequencing with 3130XL and 3500XL, realtime instruments incl LightCycler 4980, Biorad 1000, Quant7 



High throughput sequencing, genotyping and methylation analysis 

Instruments: Sequenom MassARRAY System, ABI 3130X, ABI 3500XL





Contact Us

For further information please contact Garvan Molecular Genetics Facility Manager Pavel Bitter at or call (02) 9295 8384.