Carrier Screening for Doctors

Genetic carrier screening identifies whether an individual is a carrier for an inherited genetic condition, such as cystic fibrosis.

Being a carrier usually does not affect a person's health. Screening before conception or during early pregnancy enables individuals and couples to determine their chance of having children with an inherited genetic condition.

You can download the gene lists for our Comprehensive and Extended Carrier Screening tests below.

Please note – the genes we test change frequently. Please contact our support team if you are interested in a specific gene or condition.

Genetic carrier screening is relevant to all individuals and couples, regardless of ethnic background or family history. The latest RANZCOG guidelines state:

“Information on carrier screening for other genetic conditions should be offered to all women planning a pregnancy or in the first trimester of pregnancy”.

[ranzcog.edu.au]

Carrier screening is ideally performed pre-conception, although it can also take place during early pregnancy (< 8 weeks).

In Australia, about 2% of couples have an increased chance of having children with an autosomal recessive or X-linked genetic condition.¹

90% of people have no knowledge of their genetic risk prior to having a family² and only become aware of their carrier status once an affected child is born.³

Having an awareness of genetic risk informs reproductive planning and allows access to options such as prenatal diagnosis and/or IVF with pre-implantation genetic diagnosis (PGD).

Lumi Health offers three levels of carrier screening. Our standard three condition screen looks for cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA). This option is funded under Medicare.

Lumi also offers two broader screening options, covering a wider range of inherited genetic conditions. These options have an out-of-pocket cost.

Standard Carrier Screening

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Optional testing

^{^} From when the laboratory receives your sample(s).

Lumi Health will empower couples in their reproductive journey, so they feel more informed about their reproductive choices.

Our team has over 35 years of experience in offering clinical genetics. We are medical doctors, genetic counsellors and scientists who are working together to provide fast, accurate and personalised genetic testing services for all Australians.

• Comprehensive screening: We test for over 750 conditions, offering one of the most comprehensive screening options in Australia, which allows us to provide clinically meaningful insights to couples.
• Access and convenience: With a simple cheek swab couples can access this testing across all of Australia from the comfort of their own homes.
• Support every step of the way: With our patient focused digital education and expert genetic counselling team, you and your patients will have every result explained and feel supported throughout the process.