Infertility may have a genetic basis which can be determined through testing.

It is estimated that genetics is a contributing factor in up to 10% of couples who experience infertility or recurrent pregnancy loss. Genetic and genomic causes include cytogenetic anomalies and gene defects that impair spermatogenesis, lead to premature ovarian insufficiency, or predispose to recurrent fetal aneuploidy.

A variety of genetic testing methods are used to identify the genetic basis of infertility in both men and women.

Infertility Investigations

Women who have primary ovarian insufficiency (POI) of unknown cause have a 1/50 chance of being a carrier of fragile X. The testing of women experiencing either POI or early menopause-like symptoms, for fragile X, is therefore recommended. Female fragile X premutation carriers may suffer from fragile X associated primary ovarian insufficiency (FXPOI), which can lead to infertility and early menopause in some female carriers. Common symptoms of POI include absent or irregular periods and infertility.

Test NameFragile X
Clinical Indication1. For the investigation of intellectual disability, developmental delay, autism, late-onset ataxia, neurodegeneration or premature ovarian failure.
2. Risk assessment of a relative of a person with an FMR1 mutation
MethodPCR Fragment Sizing
Turn around time2 weeks
Medicare Eligibility73300 – criteria apply
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsNone

Deletion of the DAZ cluster of genes on the Y chromosome are a common cause of spermatogenesis failure (azoospermia). The size and gene content of the deletions is associated with the clinical outcome for the patient. Determining the presence and genomic location of these deletions assists in determining the appropriate modes of reproductive assistance for patients.

Test NameY chromosome microdeletion (DAZ deletion)
Clinical IndicationIn the investigation of male infertility, to determine genetic cause for azoospermia or oligozoospermia
Gene(s)AZFa, AZFb, AZFc SRY
MethodConventional PCR and capillary electrophoresis
Turn around time14 days
Medicare EligibilityNo
Sample TypeBlood
Collection Type6mL EDTA tube
Special InstructionsNone

Chromosomal rearrangements may be the underlying cause contributing to infertility or recurrent miscarriage. A balanced rearrangement, such as a translocation, in either partner, is such an example. A conventional chromosome test (karyotype/cytogenetic analysis) is the testing method of choice to determine this.

It involves the analysis of the whole genome at the cellular level to detect large genomic changes and chromosomal rearrangements. Conventional cytogenetic analysis involves culturing white blood cells to produce metaphase spreads of chromosomes, from which slides are prepared and representative cells are captured into digital images.

Test NameChromosomes Blood
Clinical Indication

For investigation of:

1. Chromosomal causes for infertility
2. Chromosomal causes for recurrent miscarriage

Gene(s)Chromosomal Analysis
MethodConventional chromosome analysis
Turn around time35 days
Medicare Eligibility73289
Sample TypeBlood
Collection Type10mL Lithium Heparin; For difficult bleeds collect minimum 1mL
Special InstructionsTransport cooled or at room temperature.

The majority of men with cystic fibrosis (CF) have associated congenital bilateral absence of the vas deferens (CBVAD). This abnormality is associated with cystic fibrosis transmembrane conductance regulator (CFTR) variations leading to classic presentation of CF. Patients may however, still have CFTR variants without the classic CF symptoms, whilst still having CBVAD.1

Test NameCystic Fibrosis
Clinical IndicationFor the investigation of male fertility
MethodAllele-specific PCR fragment size analysis
Turn around time2 weeks
Medicare EligibilityYes – criteria apply
Medicare Description73345
Sample TypeBlood
Collection Type10mL EDTA tube
Special InstructionsMust be specialist referred to be MBS-eligible

1. Sokol, RZ (2001). Infertility in men with cystic fibrosis. Curr. Opin. Pulm. Med. Nov; 7(6):421-6.

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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