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Carrier Screening for Doctors

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This information is intended for health professionals. You can view information for consumers here.

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What is genetic carrier screening?

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.

What genes are included in Lumi Carrier Screening?

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.

Download Extended (620 +) gene ListDownload Comprehensive (1240 +) gene List

Who should I offer carrier screening to?

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”.


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

How relevant is carrier screening to my patients?

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).

What does Lumi Health offer?

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


Cystic fibrosis (CF), fragile X syndrome (FXS) & spinal muscular atrophy (SMA)

Bulk billed (no out-of-pocket charge)

for Medicare eligible patients

up to 4 weeks^ for results

Test before pregnancy

(up to 8 weeks gestation)

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

Optional testing


620+ genes


1,240+ genes


(out-of-pocket charge for Medicare eligible patients)


(out-of-pocket charge for Medicare eligible patients)

6–8 weeks^6–8 weeks^

Test before pregnancy

(up to 8 weeks gestation)

Test before pregnancy

(up to 8 weeks gestation)

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

Supporting all Australians with family planning

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.

How do I arrange testing through Lumi Health?

  1. Refer your patients to lumihealth.com.au or give them a copy of our patient brochure. Testing is arranged online.
  2. No referral or request form is needed. Patient requests are reviewed by our Lumi doctors for test suitability. Cheek swab kits will be sent to your patients.
  3. Screening results will be delivered to patients via the Lumi Health patient portal. Genetic counselling support is available through this portal.
  4. Patients will receive an additional doctor appointment with a Lumi genetic specialist. This is included in the original upfront cost of testing.

Who is Lumi Health?

The Lumi Health team has been working in genetics for over 35 years. We are medical doctors, genetic counsellors and scientists working together to provide world-leading reproductive genetic screening services to couples across Australia.

The company is a collaboration between the Murdoch Children's Research Institute (MCRI), myDNA Australia (myDNA), and the Victorian Clinical Genetic Services (VCGS).

Lumi aims to make carrier screening services simple and easily accessible to help support informed reproductive planning.