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Our Services - Single Variant Analysis by SNG

What is Sanger Sequencing (SNG)?

While whole genome sequencing (WGS) is a powerful tool that can provide a comprehensive view of a person's genetic makeup, it is not always the most practical or cost-effective option for every situation.

In cases where a known genetic variant has already been identified through previous testing or research, Sanger sequencing can be a targeted and efficient way to confirm the presence of a specific variant in a patient's DNA. This is because Sanger Sequencing sequences a highly targeted portion of one gene that may contain a specific variant of interest, whereas WGS involves the whole genome.​ Additionally, Sanger sequencing is a highly accurate method for detecting individual nucleotide changes, which is often all that is needed when looking for a known variant. 

TOM1 Sanger Picture 2.JPG
Clinical Advantages of SNG?

1.   Targeted analysis: Sanger sequencing allows for the specific targeting and analysis of known variants of interest. This can be particularly useful when investigating a specific genetic variant associated with a disorder. Whole genome analysis, on the other hand, provides a comprehensive view of the whole genome, which includes large amounts of data not relevant to the specific variant of interest.

2.   Cost and time effectiveness: Sanger sequencing is generally more cost-effective when analysing a limited number of known variants. Whole genome analysis requires higher sequencing and computational costs. If the focus is only on known variants, Sanger Sequencing can provide the necessary information in a more cost and time efficient manner.

3.   Quality control: Sanger sequencing is a well-established and widely used technique, with robust quality control measures in place. It has been extensively validated and standardized, making it reliable for clinical applications. Investigating previously detected variants often requires a known positive control sample.

Request Form
Sanger Sequencing or MLPA Request Form

Version: 5.0          Release Date: 04/10/2023

Please ensure you provide the specific location of the target base(s). For the sequencing of whole genes or gene families, please use the whole genome sequencing request form.

Turn-Around Time

2-4 weeks

Please note: TATs are dependant on the receipt of a completed test request form (including consent) and specimen(s).


All testing done through Canberra Clinical Genomics is free for ACT and surrounding residents and their family members.

Currently, no paid services are available to residents outside the ACT and surrounding area so eligibility is essential.

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