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Pregnancy

Expanded carrier screening

Screening for hundreds of serious recessive and X-linked conditions you could pass on, from a saliva sample.

What it measures

Cystic fibrosis (CFTR)Spinal muscular atrophy (SMN1)Fragile X (FMR1)300 or more additional recessive and X-linked genes
This is a screening test, not a diagnosis. Results are explained by a doctor and, where needed, a genetic counsellor. High-probability results are confirmed with diagnostic testing arranged with your doctor.
Where it is tested. Genomic tests are performed by an accredited specialist genomics laboratory, in Australia or overseas. We name the laboratory, its accreditation and where it is on this page before ordering opens, and you consent to that before you order. The laboratory receives your sample and a KnowLuna sample number, never your name or contact details, and destroys the sample and raw sequencing data after reporting.

Who it's for

Planning a pregnancy or in early pregnancy and wanting screening beyond the three-gene panel, including couples with a family history, from communities with higher carrier rates, or using donor gametes. Adults aged 18 and over.

What you'll learn, and what you won't

The Medicare-rebated three-gene screen covers the three most common conditions. An expanded panel screens hundreds of genes at once. Most people are found to carry something; that is normal and usually only matters if your partner carries a change in the same gene, so a carrier result leads to partner testing (or the couple test) and a genetic counselling conversation, not alarm.

A genetic test is one input to a doctor's assessment, not a diagnosis on its own. If anything needs prompt attention a doctor contacts you directly.

How it works

  • Order online. Either use the request your own doctor has signed, or a KnowLuna women's health doctor reviews your details and requests the test.
  • Give your sample; collection details are confirmed at launch. Any time, ideally before pregnancy. Saliva kit at home or a blood draw. Once in a lifetime.
  • Results are ready about 3 to 4 weeks from the sample reaching the laboratory, explained in your account, with a doctor to talk them through and a genetic counsellor where a result calls for it.

How you collect

Sample collection details are confirmed at launch. Whichever option applies to this test, it is the same accredited test and the same report.

Join the waitlist to hear the moment collection details are announced for your area.

Common questions

Should I do the three-gene screen first?

If you are eligible, the three-gene screen is Medicare-rebated through a GP request and is a sensible first step. Expanded screening goes further and is self-pay. A KnowLuna doctor helps you decide which fits your situation.

What happens if I am a carrier?

Your partner is tested for the same gene, or you order the couple version from the start. A genetic counsellor explains the result and the reproductive options, which are widest before pregnancy.

Is my DNA kept?

No. The laboratory destroys the sample and the raw sequencing data after reporting, and never uses either for research or shares them. We name the laboratory and where it is before you order.

Know what's happening.
Then decide.
Doctor-requested. Plain English. On your terms.
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