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Free Testing Note

Our Services

All services provided by Canberra Clinical Genomics are FREE for ACT and surrounding residents*.

*Eligibility is based on local residents who have a completed CCG request form from a Genetic Health service or a referring Physician (see the "Information for Clinicians" page for details when pre-test genetic counselling is sometimes required).

​No patient paid services are offered so eligibility is essential.

Our Testing Options:
Whole Genome Sequencing

Our Whole Genome Sequencing and analysis service provides an extensive view of your genome. By sequencing all your DNA, we can identify genetic variants, including both known and novel, that may contribute to various disorders and conditions. This technique can uncover specific diagnoses, prognoses, personalised treatments, and assist with linkages to specialised support groups.

Single Variant Analysis (Sanger Sequencing)

Sanger Sequencing, a gold standard in genetic analysis, allows us to confirm or correlate specific DNA variants or regions of interest. With Sanger Sequencing, we can accurately confirm the presence or absence of known genetic variants. This targeted approach is particularly valuable when focusing on specific variants associated with inherited disorders or screening for well-characterized genetic markers. 

Copy Number Variant Analysis (MLPA)

Our Multiplex Ligation-dependent Probe Amplification (MLPA) service enables precise detection and confirmation of copy number variants. By employing specific probes, MLPA allows us to analyze specific genomic targets and identify alterations such as multi-exonic duplications and deletions. This technique offers high sensitivity and specificity, making it ideal for diagnosing genetic disorders characterized by changes in gene dosage.

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