Clinical Diagnostic Sanger Sequencing Service


Access to our Online Sample Submission Portal

Online Sample Submission Portal Client Instructions

How to submit samples video


Sample Submission Guidelines

Screen Shot 2021-03-19 at 14.41.21.png

Patient Consent Form

Terms and Conditions

Privacy Policy


Accreditation No: 18464 (category S)


Clinical Diagnostic Sanger Sequencing Service at Garvan Molecular Genetics

Confirmatory Sanger Sequencing Service (level 1)

Our sequencing facility is NATA ISO 15189 accredited to perform Sanger Sequencing for confirmation of defined mutations or polymorphisms or detecting heterozygous loci. 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. 


Sample Submission Forms

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 (Access to our Online Sample Submission Portal) .



For pricing please see our Molecular Genetics Shop webpage.


Sending your samples

Please mail samples via Australia Post to:

Garvan Molecular Genetics 

Level 8 Garvan Institute
384 Victoria Street
Darlinghurst, NSW, 2010


Receiving Results

Our turnaround time can be as fast as 10 working days in urgent cases and 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 unauthorized.  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.


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 patients 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 name, DOB, or disease-specific information.


What information do I require to submit samples?

  • The patient has to read and acknowledge GMG's Privacy Policy (which you can download from our sample submission portal here)
  • Once read the patient has to 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