What conditions are covered by Generation?

All Generation options look for too few (missing) or too many (extra) copies of chromosomes. The most commonly seen and accurately chromosomal changes detected include: Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), specific sex chromosome number changes, and fetal sex.

What conditions are covered by Generation 46?

The Generation 46 option screens for gains and losses of all 46 chromosomes (pairs 1 through 22 plus the sex chromosomes X and Y), including trisomy 21, 18 and 13, and the sex chromosome number changes. It screens for extra or missing whole chromosomes and also for extra or missing parts of the baby's chromosomes.

What conditions are covered by Generation Plus?

The Generation Plus option screens for all conditions included in the standard Generation option as well as a range of specific small microdeletion syndromes: 22q11 deletion (DiGeorge syndrome), 15q11 (Angelman/Prader-Willi syndrome), 1p36, 4p (Wolf-Hirschorn syndrome), and 5p (Cri-du-chat syndrome).

How much is the Generation NIPT and does Medicare or Private Health Insurance cover it?

The cost for the Generation NIPT is $485, for Generation 46 it is $525 and for Generation Plus it is $799. Testing requires payment before it is performed. The Generation NIPT does not qualify for a Medicare rebate and is not covered by private health insurance.

How does the Generation test work?

During pregnancy, some of the baby's DNA from the placenta crosses into your bloodstream. After your blood test, the Generation NIPT tests this DNA to identify certain chromosome conditions in your pregnancy. The Generation test uses Massively Parallel Sequencing to analyse millions of DNA fragments per sample and accurately count the number of chromosomes present.

Why should you have the Generation test?

It can be used to obtain important and accurate information about the health of your developing baby in the first trimester (at 10 weeks), with little or no risk to the pregnancy. This screening test may be an option if you will be 35 years or older at delivery, have an abnormal serum screen, ultrasound concerns, or family history of chromosome disorders.

Do normal Generation test results mean that my baby will be perfectly healthy?

The Generation prenatal test is a highly accurate advanced screening test that is non-invasive. However, no test can guarantee a baby will not have any medical issues. The Generation test only addresses aneuploidies of specific chromosomes including the sex chromosomes.

Does it cost more to find out the fetal sex?

There is no cost to find out your baby's sex. Your doctor just needs to specify on the Generation NIPT request form if you want to be told about the fetal gender, or for it not to be included in your results.

Can I order/pay for the fetal sex identification only?

The Generation range of NIPT tests are offered as screening tests for chromosomal changes and the sex of the baby is included as part of this, if requested. We do not offer gender identification as a separate test.

How accurate is the Generation test?

NIPT is a highly accurate screen for chromosomal conditions and is much better than older style screening tests. However, sometimes a pregnancy can be identified as high risk by NIPT but the baby may not have a chromosomal condition. All high risk results should be confirmed by a diagnostic test.

When can I have my NIPT done?

Your NIPT test has been designed to reliably detect fetal chromosomal changes from 10 weeks gestation onwards. Testing before 10 weeks results in a higher test failure rate.

How late in my pregnancy can I be tested?

Testing can be performed any time from 10 weeks onwards up until the date of delivery. However, options available in the case of high risk results may be limited for later term testing, based on individual state regulations.

What is the difference between this test and a Maternal Serum Screen?

The maternal serum screen is only available during the first trimester whereas NIPT can be offered anytime during pregnancy. The accuracy of serum screening is not as high as NIPT for the common aneuploidies and it has both a higher false positive and a higher false negative rate than NIPT.

Is there a discount for healthcare card holders?

No. There are no Medicare rebates for NIPT testing at this time. We endeavour to keep our prices as low as possible.

How quickly can I get my Generation NIPT results?

Your Generation NIPT and Generation 46 results are available 3-5 working days after your sample arrives at the laboratory. For Generation Plus, results will take up to 9-14 days from arrival at the laboratory. Your results are sent directly to your doctor once complete.

When can I do an NIPT test?

An NIPT test can be performed from 10 weeks onwards. You can come into our collection centres right on the day after you have passed the 10 week mark.

Genetic testing in the Reproductive Health Journey

Further information

Genetic Carrier Screening & Alpha Thalassaemia

EARLY PREGNANCY

PRE-PREGNANCY

What do they detect:

Genetic Carrier Screening:
Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X syndrome carriers
Alpha Thalassaemia:
Alpha Thalassaemia carriers

Important considerations:

RANZCOG recommends offering both tests to patients planning a pregnancy or currently pregnant.
Medicare covers male testing only when the female partner is identified as a carrier of CF or SMA.
Genomic Diagnostics now offers full gene sequencing on Cystic Fibrosis.

Generation™ NIPT Options

EARLY PREGNANCY

MID-PREGNANCY

What do they detect:

Generation™ NIPT:
Common conditions (Downs, Edwards, Patau) and sex chromosome conditions
Generation™ 46 NIPT:
Common and rare conditions across all 46 chromosomes including whole and partial chromosome deletions and duplications
Generation™ Plus NIPT:
Common and selected microdeletion conditions (22q11, 15q11, 1q36, 4p and 5p)
Fetal Sex:
Is optional and available for all Generation™ NIPT options.

Important considerations:

Can only be performed from 10 weeks’ gestation.

Fetal RhD Testing

EARLY PREGNANCY

MID-PREGNANCY

What do they detect:

Fetal RhD status in RhD negative pregnant women

Important considerations:

Recommended after 18 weeks’ gestation but can be performed from 11 weeks.
Negative fetal RhD results before 18 weeks are recommended to be retested after this time.

Genetic Counselling:

A free-of-charge telehealth counselling session is available for high‑risk results for GCS and GenerationTM NIPT. If the patient is eligible, this will be noted in the report under the Results. Please contact the Customer Care team to arrange an appointment for the patient.

Patient Discussion

Discuss Genomic Diagnostics reproductive health products with your patient. Order the required tests using the appropriate test request form, noting any indication or relevant clinical details.

Test request forms are available via patient management software, online at genomicdiagnostics.com.au, or as hard‑copy pads.

Genetic testing in the Reproductive Health Journey

Genetic Carrier Screening & Alpha Thalassaemia

What do they detect:

Important considerations:

Generation™ NIPT Options

What do they detect:

Important considerations:

Fetal RhD Testing

What do they detect:

Important considerations:

Patient Discussion

Sample collection

Test results