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Our carrier screening tests can help you make informed family planning decisions.
Not sure which test is right for you? Use our simple online tool to compare.
June 27, 2024 ✦ 2 min read
Usher Syndrome is a rare genetic disease that affects both hearing and vision.Usher syndrome is an inherited genetic condition where both the mother and father have the recessive gene, also known as carriers of the condition.Approximately 1 in 6000 Australians are affected by usher syndrome.
June 27, 2024 ✦ 2 min read
Phenylketonuria (PKU) is a health condition that affects children from birth. People affected by PKU are unable to break down specific proteins within food, resulting in a build up of proteins. PKU is...
November 24, 2023 ✦ 3 min read
Ehlers-Danlos Syndrome (EDS) is a group of health conditions impacting connective tissue within the body. EDS is a genetic condition passed down from parents to their children. EDS can be classed into 13 subtypes, each with their own presentation of symptoms and genetic causes.
November 24, 2023 ✦ 2 min read
Fragile X Syndrome (FXS) is a health condition that affects children from birth and impacts a range of systems within the body. FXS is a genetic condition inherited from the parents through genes that have been passed down. This condition impacts about 90,000 Australians.
November 24, 2023 ✦ 3 min read
Spinal muscular atrophy (SMA) is a genetic health condition affecting the nerves within the spinal cord. This condition affects muscle movement and control of the body, including; arm and leg movement, breathing, and coughing. SMA is a genetic condition inherited from parents where both parents have the affected SMN1 recessive gene. SMA impacts 1 in every 10,000 people.
November 24, 2023 ✦ 3 min read
Cystic Fibrosis is often considered an ‘invisible illness’ – those living with CF may not look unwell, despite the battles going on inside the body. This condition impacts over 3600 people living in Australia today, making it one of the most common rare diseases in Australia.
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