Genetic Carrier Screening identifies couples at risk of having children with serious genetic conditions, in order to inform reproductive decision-making.

Carrier screening tests for genetic variants that, when passed on to children by one or both parents, cause severe or life-threatening autosomal recessive and X-linked disorders. Carriers of genetic disorders are usually asymptomatic and therefore unaware of their personal carrier status unless they undergo screening. Establishing carrier status can be extremely useful for guiding couples in reproductive decision-making, and pregnancy and neonatal care management. Australian and international guidelines recommend carrier screening be offered to all women planning pregnancy (preferred pathway) or in the first trimester of pregnancy.

Genomic Diagnostics offers core genetic carrier screening, which tests for three common genetic conditions (cystic fibrosis, spinal muscular atrophy and fragile X syndrome), and expanded genetic carrier screening, which tests for 175+ genetic conditions.

For all genetic carrier screening tests, couples shown to be carriers should be offered genetic counselling. This supportive process provides further information around the test result, associated genetic condition, and management options.

Genetic Carrier Screening

Genomic Diagnostics offers two genetic carrier screening options.

Core Genetic Carrier Screening
  • Cystic Fibrosis
  • Fragile X
  • Spinal Muscular Atrophy

Results available within 10-12 business days.

Myriad Foresight Expanded Carrier Screening
  • Over 175 conditions
  • Pre and post genetic counselling included

Results available within 10-15 business days from receipt in our overseas laboratory.

The Core Genetic Carrier Screen tests for three core genetic conditions recommended in the general Australian population: cystic fibrosis (CF), fragile X (FXS), and spinal muscular atrophy (SMA). Many children affected by these conditions are born to families with no history of disease due to the relatively rare nature of the conditions and their inheritance patterns – autosomal recessive or X-linked in the included conditions.

Genetic counselling is provided free of charge to couples who have tested positive to being carriers for one or more conditions in the panels for the Core Genetic Carrier Screen. It can be accessed through Genomic Diagnostics and more information can be found on the Genetic Counselling page.

Test NameGenetic Carrier Screen
Clinical IndicationTo determine the carrier status of genes for fragile X, spinal muscular atrophy and cystic fibrosis in prospective parents
Gene(s)FMR1, SMN1, CFTR
MethodPCR Fragment Size Analysis (FXS), MLPA (SMA) & Allele specific PCR – 51 SNP Panel (CF)
Turn around time2 weeks
Medicare EligibilityNone
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsReproductive partners of carriers identified by this test will be tested for SMA or CF free of charge. Please indicate partner name, lab ID (if available) and requested test on clinical notes.


Expanded carrier screening (ECS) panels can be used to detect a wider range of at risk couples from different ethnicities in comparison to core carrier screens, while still including cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X. The Myriad Foresight Carrier Screen screens for over 175 conditions that have been selected as serious, inherited, genetic conditions. It has been designed to maximise detection rates for a greater range of diseases.

Counselling is included in the cost of the Myriad Foresight Carrier Screen. Patients will need to contact Myriad directly to take up this offer.

Test Name Myriad  Foresight Carrier Screen
Clinical Indication Preconception screening of prospective parents for autosomal recessive genetic conditions.
Gene(s) 175+ genes
Method Massively Parallel Sequencing
Turn around time 2 – 3 weeks from receipt in our overseas laboratory
Medicare Eligibility No
Sample Type Blood x 2
Collection Type 4mL EDTA tube only
Special Instructions Myriad Foresight Expanded Carrier Screen custom request form required to be completed.
Cystic fibrosis (CF) is an inherited disease that affects the secretory glands, mostly affecting the lungs, pancreas, liver, intestines, sinuses, and sex organs. Testing for cystic fibrosis (CF) in a carrier setting may be appropriate, particularly when considering the partner of a patient with confirmed CF carrier status. The carrier rate in the general Australian population is ~1/25.
Test Name Cystic Fibrosis
Clinical Indication Carrier Screening – Testing of a prospective parent with no family history of cystic fibrosis for determination of the risk of having a child with cystic fibrosis. Carrier Testing for either: 1. a relative of a person with a known CFTR pathogenic variant 2. a reproductive partner of a person with a known CFTR pathogenic variant For the testing of a pregnant patient and/or their partner in order to make or exclude a diagnosis of cystic fibrosis in the fetus. For the investigation of male fertility (CBVAD)
Gene(s) CFTR
Method Allele-specific PCR fragment size analysis
TAT 2 weeks
Medicare Eligibility No Yes – criteria apply
Medicare Descriptor N/A 73348, 73349 73350, 73347, 73346 73345
Sample Type Blood
Collection Type 10mL EDTA tube
Special Instructions None Must be specialist referred to be MBS-eligible for item numbers 73345, 73346, 73347, 73348 & 73350.

Fragile X syndrome (FXS) is an inherited genetic disease that causes intellectual and developmental disabilities. FXS is the most common hereditary cause of mental disability in males, but females can also be affected. It is also the most common single gene cause of autism worldwide, and appears in people of all ethnic, racial and socio-economic backgrounds. The carrier rate in the general Australian population is ~1/150.

Test NameFragile X
Clinical IndicationPreconception Genetic Carrier screening
MethodPCR Fragment Sizing
Turn around time2 weeks
Medicare EligibilityNo
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

Spinal muscular atrophy (SMA) is a genetic condition which results in the loss of motor neurons and progressive muscle wasting. It presents with a range of symptoms and has a variable rate of progression and age of onset. SMA is classified into types 1 to 4, with type 1 being more severe and prominent at a younger age and type 4 being adult-onset with a normal life expectancy with no severe disability. Approximately one in 49 people are carriers in Australia and they have a 25% chance of having a baby with SMA if their partner is also a carrier.

Test NameSpinal Muscular Atrophy (SMN1 deletion)
Clinical IndicationCarrier Screening (Diagnostic Testing not offered)
Turn around time2 weeks
Medicare EligibilityNo
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

The Reproductive Health Test Journey

Starting a family is an exciting and sometimes confusing time for your patients. There are a number of genetic tests you may like to consider for them during this process.


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