Single-gene NIPT | KnowLuna

What it measures

Achondroplasia and other skeletal dysplasiasNoonan spectrum disordersRett syndromeCHARGE syndromeOther de novo dominant conditions

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

Pregnant from 10 weeks where paternal age is over 40, an ultrasound has shown a skeletal or growth finding, or you want screening for the dominant single-gene conditions that chromosome NIPT cannot see. Adults aged 18 and over.

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

Standard and genome-wide NIPT look at whole chromosomes and large segments. Single-gene NIPT reads specific genes in the placental DNA for new (de novo) or paternally inherited dominant changes, which together are about as common as Down syndrome but are not detected by any other prenatal screen. A high-chance result is confirmed by diagnostic testing.

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. From 10 weeks of pregnancy. No fasting. Can be ordered with standard or genome-wide NIPT from the same draw.
Results are ready about 10 to 14 business days from collection, 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

Who should consider it?

It is most often chosen where the father is over 40, where an ultrasound has shown a skeletal, heart or growth finding, or after a previous pregnancy affected by one of these conditions. It is also available simply because you want the broadest screening.

Does it replace standard NIPT?

No. It screens a different class of condition. Most women who choose it order it together with standard or genome-wide NIPT from the same blood draw.