Clinical Diagnostic Sanger Sequencing Service

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 certified to perform Sanger Sequencing for confirmation of defined mutations or polymorphisms or detecting heterozygous loci. We offer a full service that can start with extracting DNA from patient blood, designing PCR primers, amplifying the DNA, Setting up Bigdye reaction, capillary separation to analysing the results and issuing a technical report. If you wish to receive a clinical diagnostic report with interpretation of the findings, signed by a genetic pathologist we can provide this for some extra fee too.

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) .

Pricing

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 can issue a technical report and the raw data traces. If required a genetic pathologist will interpret the data and prepare a clinical report. 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.