The Fertility Panel

Approximately one in six Australian couples will have trouble conceiving. Fertility issues leading to pregnancy delay, can be caused by male or female issues or a combination of both.

Often these conditions can be identified and treatment plans developed. However, approximately 10-20% of couples with fertility issues will have what is called unexplained infertility.

The creation of life is complex, and sadly, science and medicine do not always provide us with definitive answers. The Fertility Panel has been designed to investigate genes, in both males and females, which are specifically associated with difficulties in conceiving or maintaining a pregnancy.

Understanding why genes matter

When we think of genes it is often in the context of inherited traits or characteristics (e.g. why you may look like your mother), or perhaps inherited diseases (e.g. the BRCA gene that has been linked to breast cancer). What you may not be so familiar with is the relationship that genes have with proteins, and the significance that this has to every single function in your body, and in turn to your reproductive health.

Genes are like a blue print that your body needs to function correctly. This is because genes make proteins and proteins perform critical and specific tasks in the body – everything from digesting your food to transporting your oxygen.

Every gene is made up of a specific sequence of DNA. This sequence is the information that is necessary to create specific proteins. We all have some level of variation in our genes, i.e. the DNA sequences are not as they should be and, much of this variation is harmless, and most of us are not aware that it exists.

The genes that we test for in The Fertility Panel are all related to you and your partner’s ability to get pregnant, or successfully carry a child to full term.

What does the fertility panel test for?

Females and males

Cystic Fibrosis
Testing in our laboratory has shown 1 in 16 of our male patients and 1 in 23 of our female patients carries a mutation causing Cystic Fibrosis. In most cases our patients were unaware they carry this mutation. The Fertility Panel screens for over 1,000 mutations in this gene. Many mutations in this gene will cause CF in a child if inherited from both patents.

There are also a number of mutations in the CF gene, in males, that affect normal development of the tube (vas deferens) leading from the area of sperm production in the testis. Absence of this tube is one cause of male infertility, however treatment pathways are available with IVF.

This gene is important in allowing chromosomes to separate correctly during the formation of the egg and sperm. Variations in this gene have also been identified in some female patients with an ovarian reserve that is lower than expected for their age.


This gene is important in processing of folic acid. Folic acid plays a major role in the prevention of neural tube defects. One specific mutation causes hyperhomocystinaemia - elevated levels of homocysteine. This condition is typically managed with vitamin B6, vitamin B9 and vitamin B12 supplementation.

Prothrombin and Factor V Leiden
These genes are involved in the clotting pathway in the blood and variants in each of these genes can be associated with recurrent pregnancy loss.

FSH receptor
Patients can respond differently to ovarian stimulation with Follicle Stimulating Hormone (FSH) in IVF cycles and there is a variant in this gene that can predict an adverse response particularly helpful in preparing for fertility treatment.


This is a group of genes that control sperm production. If one or more of these genes are absent, sperm production may be very low or absent again guiding most appropriate fertility treatment.

Haemochromatosis is a very common genetic disorder (1/200 affected individuals in the population) involving excess iron storage in the body with clinical symptoms appearing only between 30-50 years of age. In males, affected individuals can have poor sperm motility and/or altered hormone levels.

Who should be tested?

Anyone who is experiencing pregnancy delay, or has had more than one miscarriage may benefit from this test. You should discuss this test further with your Fertility Specialist. The Fertility Panel is most beneficial when both partners are tested.

How do I get tested?

The Fertility Panel can be requested by your Queensland Fertility Group Specialist, and is performed on a sample of your blood.

What if I test positive?

Your Fertility Specialist will discuss all of your results with both you and your partner. In most instances the information will then be used to determine an appropriate treatment plan to help you on your path to pregnancy.

How much does the fertility panel cost?

The Fertility Panel test costs $380.

To find out more about The Fertility Panel, please call 1800 111 483 to speak with an experienced fertility advisor, or send an email enquiry.