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Sanger sequencing and fragment analysis

Providing capillary sequencing and fragment separation services to the research community

Our medium throughput Sanger sequencing service offers quality expertise, advice and outcomes at competitive prices. Our flexible service modules allow you to choose the exact level of service your project requires. As part of Garvan’s Molecular Genetics Core Facility, we support researchers within the Research Precinct, as well as external clients.

We offer six distinct capillary sequencing and fragment separation services, along with post-sequencing services, all of which are facilitated through our Sample Submission Portal: 

  • Premix PCR product or plasmid + primer and SEQ 

  • Plasmid mix and SEQ 

  • PCR mix and SEQ 

  • PCR setup and SEQ 

  • PCR design and SEQ 

  • Fragment separation with or without size standard 

  • Post-sequencing services. 

Premix PCR product or plasmid + primer and SEQ

This is our fastest and most economic service. Submit your premixed sample (PCR product or plasmid mixed with 3.2 pmol of primer) and receive the results within 24 hours. Please see our Sample Submission Guidelines for detailed guidance on preparing and submitting your sample.

Plasmid mix and SEQ

Submit your plasmid DNA and nominate a primer from the list available in our Sample Submission Guidelines, or send us your primer.  

We will:   

  1. Quantify the plasmid DNA and dilute it to the right concentration 
  2. Dilute the primer to 3.2 pmol 
  3. Mix the primer with the plasmid DNA 
  4. Perform cycle sequencing and clean-up 
  5. Perform capillary separation 
  6. Send you the results. 

The turnaround time for this service is 48 hours. 

Alternatively, you can send us the sequence of the primer you want your plasmid DNA sequenced with and we will order it and use it to sequence your samples. The cost of the primer will be charged to your account. Please add four working days to the standard 48-hour processing time for this option. 

PCR mix and SEQ 

Send us the PCR product you are interested in and nominate or send us the primer you want to use for sequencing.

We will: 

  1. Measure the concentration of the PCR product 
  2. Dilute the primers and mix them with the PCR product at the correct concentration 
  3. Perform cycle sequencing and clean-up 
  4. Perform capillary separation 
  5. Send you the results. 

The turnaround time for this service is between five to seven working days. Please refer to our Sample Submission Guidelines for information about preparing and submitting your sample. 

PCR setup and SEQ

Send us the DNA sequence you are interested in or define the gene or exon you would like to have sequenced and submit your genomic DNA sample to us, as per the information in our Sample Submission Guidelines

We will: 

  1. Order the primers and perform the PCR 
  2. Clean up the PCR product 
  3. Measure the concentration of the PCR product 
  4. Dilute the primers and mix with the PCR product at the correct concentration 
  5. Perform cycle sequencing and clean-up 
  6. Perform capillary separation 
  7. Send you the results. 

The approximate turnaround time for this service is seven days, including ordering primers.  

PCR design and SEQ

Send us the DNA sequence you are interested in, or define the gene or exon you would like to have sequenced, and submit your genomic DNA sample to us.  

We will: 

  1. Look at the gene and design the primers 
  2. Order the primers and perform the PCR 
  3. Clean up the PCR product 
  4. Measure the concentration of the PCR product 
  5. Dilute the primers and mix them with the PCR product at the correct concentration 
  6. Perform cycle sequencing and clean-up 
  7. Perform capillary separation 
  8. Send you the results. 

If you have one design and many samples, you may be eligible for a discount. Please contact us to request a quote. We can also extract the DNA for you if you have tissue or blood samples. Please see also our DNA/RNA Extraction Service. 

The approximate turnaround time for this service is seven days, including ordering primers. 

Fragment separation with or without size standard

Our fragment analysis service provides both capillary separation and analysis services for fluorescently labelled DNA fragments. For this service, you will perform the PCR and send us the PCR product for electrophoresis. We can run your premixed samples (samples + size standard) or you can send us your samples and we will add size standard (GS 600 or GS 500 – please specify when you submit your samples) and perform the fragment analysis run.  

Our platform can accommodate up to four different coloured fluorescent dyes: 

  • 6-FAM 

  • VIC 

  • NED 

  • PET

This means multiple markers can be amplified in one sample. After the PCRs, the products can be pooled and run in a single capillary. When multiple markers of the same colour are pooled, it is important to ensure that the fragment size range of markers does not overlap.  

The turnaround time for this service is two to three working days. Please refer to our Sample Submission Guidelines for information about preparing and submitting your sample. 

Post-sequencing services

In addition to our capillary sequencing modules, we offer post-sequencing service modules. We analyse your sequencing products for mutations (predictive or confirmatory) and provide a report on our findings.

Garvan's Genetics Core Facility was established in 2004 through support from the Australian Cancer Research Foundation (ACRF). 

Our services are provided through our sample submission portal. Visit the portal to create a new account, log into an existing account or find out more about submitting samples. 

Before you submit a sample, please read the sample submission guidelines.   

Send your samples to: 

Garvan Molecular Genetics  

Garvan Institute of Medical Research 

Level 8 
384 Victoria Street 
Darlinghurst NSW 2010 

 

Garvan researchers can drop off samples in person. Please place samples on the second shelf of the sample reception fridge in Room 8.05, which is labelled ‘Sample Reception Tray’. 

For support in accessing the portal, please email gmg@garvan.org.au

Pricing 

Pricing for external, non-commercial clients is available here. If you are a commercial client, please contact customerservice@garvan.org.au for further information. 

Garvan researchers are eligible for special discounted prices. If you work in the Precinct, you will pay a precinct price.  

Receiving your results 

All results will be provided as downloadable files from our online sample submission portal. Once sample processing has been completed in the lab and your results are available, you will receive an email with instructions on accessing your results. 

Our sequencing facility is NATA ISO 15189 accredited to perform Sanger Sequencing for confirmation of defined mutations or polymorphisms or detecting heterozygous loci. As part of Garvan’s Molecular Genetics (GMG) Core Facility, our high-throughput, accurate and cost-effective services support researchers within the Research Precinct, as well as external clients.  

Our services 

We provide confirmatory Sanger Sequencing Services (level 1). We can only perform confirmatory sequencing which means the results must have been generated by whole genome or exome sequencing or microarray analysis before the samples are submitted to our service. We will then extract DNA from patient blood, design PCR primers, amplify the DNA, set up BigDye reaction, perform capillary separation and analyse the results. We will issue a technical report which needs to be interpreted by a clinical pathologist to be clinically relevant.     

Accessing our services 

The sample submission process is explained in the Sample Submission Guidelines. Please use our online Sample Submission Portal for sample submission and, if needed, send the patient consent form via email

Turnaround times 

Our turnaround time can be as fast as 10 working days in urgent cases. Regular sample submissions are usually completed within 20 working days. We upload the technical report and the raw data traces to the online portal which guarantees that patient data is inaccessible to anybody unauthorised. You will be notified about the completion of the report via our online Sample Submission Portal's email system. An email with a download link will be sent to your nominated email address. 

For support in accessing the portal, please email gmg@garvan.org.au.   

Frequently asked questions 

What is a technical report? 

A technical report details the process or results of a scientific process. In the case of GMG, it is the sequencing results of a known genetic mutation for a patient. 

How does a technical report differ from a clinical report? 

A technical report cannot be used for diagnostic purposes or in any manner that will impact the patient’s care unless it has been interpreted by a Genetic Pathologist. 

What samples does GMG accept/what samples doesn’t GMG accept? 

We accept samples for CONFIRMATORY sequencing of a known mutation i.e. previous NGS results. 

We do not accept samples for: 

  1. Diagnosis of an unknown mutation 

  2. Predicative testing for at-risk relatives previously undiagnosed 

  3. Cascade testing for at-risk relatives previously undiagnosed. 

How do I liaise with the lab about my sample? 

Do not use any identifying information about patient samples in emails. Please only use the manifest name or the lab ID when requesting information, never the patient’s name, DOB or disease-specific information. 

What information do I require to submit samples? 

  • The patient must read and acknowledge GMG's Privacy Policy (which you can download from our Sample Submission Portal here)

  • Once read, the patient must sign GMG's Patient Consent Form (which you can download from our Sample Submission Portal here)

  • HREC number (if applicable).  

What is our accreditation and category of supervision? 

We are accredited to ISO 15189; our accreditation number is 18464 and we are a Category S lab. 

Useful links 

Access to our Online Sample Submission Portal 

Online Sample Submission Portal Client Instructions 

How to submit samples video 

Sample Submission Guidelines 

 

Terms and Conditions 

Privacy Policy