Phone
Email
enquiries@rgtesting.com.au
Address
Level 3, Rivercity Private Hospital 401 Milton Rd, Auchenflower Brisbane QLD 4066
Rare diseasesRare diseases are serious health conditions that each affect fewer than 1 in 2,000 people yet collectively impact around 6–8% of Australians. Although each disorder is uncommon, together they represent a significant public health issue. Most rare diseases are genetic in origin, with many appearing in childhood, and they can range from life-threatening to chronically disabling. Due to their complexity and rarity, diagnosing these conditions is often challenging and delayed, and they frequently require specialized care.
| About the testWhole exome sequencing (WES) is a comprehensive genomic test used to identify variants in the protein-coding regions (exons) of the genome that may be linked to genetic conditions by analysing genes specific to the patient’s phenotype. Rare and complex diseases are often difficult to diagnose and WES may be useful in providing more clinically actionable insights where previous genetic testing were inconclusive.
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