Connecting you with us

Reproductive health

We want to partner with you when you are doing it tough in your reproductive years and need some guidance, to take back control and explore what testing might be available. We are also happy to work with you when there is an unusual finding during a pregnancy.

Preconception health

It begins with an idea. An idea that you want a baby. Planning a pregnancy is the perfect time to see us so you will have the best chance of starting your journey on the right foot. This is where reproductive genetic carrier screening is most useful.

A genetic service just for you

Have a read below and see where you fit.

Paediatric health

This is where our passion lies. We want to help you out of the public health queue and into our service; quickly, easily, efficiently. Early diagnosis, treatment and conversations lead to better health outcomes.

Adolescent health

A period of growth and change; it’s important and impactful. Perhaps a diagnosis has been missed or dismissed and it needs revisiting to ensure a complete management plan is in place.

Genetic health

The family reunion has revealed some genetic information that is confusing and and maybe a little confronting. From an inherited condition to being in a first cousin relationship - you need to talk to us and work through what this actually means for you,

Adult health

Ageing presents its own genetic challenges, and you need to know what’s ahead so you can be supported in your golden years of life. It’s also a chance for family health information to be passed down to the next generation.

Where does our expertise lie?

  • Your baby or child may have been born with some difficulties. We are able to help with:

    • developmental delay

    • intellectually disability

    • autism spectrum

    • unusual physical features

    • skeletal dysplasia

    • neuromuscular conditions

    • metabolic conditions

    • epilepsy and neuronal migration conditions

  • There are more than 350 inherited eyes conditions that run in families:

    • Stargarts’s

    • Retinitis Pigmentosa

    • Leber amaurosis

    Maybe you have been told there is only one place to get genetic testing for eye conditions and you have to wait to be tested as part of a research program which will take 6 months OR maybe you have found us and you want to be seen quickly and easily and get results back in as little as 4 weeks with testing done by an internationally accredited lab. You are in the right place.

  • This refers to the structure of our heart, and how it works. We see:

    • congenital heart disease

    • cardiomyopathy

    • arrhythmias

    • in adults and children

  • We can do anything related to pregnancy including:

    • reproductive carrier screening

    • prenatal screening tests and diagnostic testing discussion

    • unusual or high risk pregnancy results

    • consanguinity

    • multiple miscarriages or still born baby

    • maternal age counselling

  • Big word but just means any genetic condition that affects the blood

    thalassaemia - alpha and beta

    sickle cell disease

    von willebrand disease

  • this is about inherited cancers such as:

    • breast and ovarian cancer

    • bowel cancer

    • lynch syndrome

    • pancreatic

    • prostate

    predictive testing and proactive screening and you should follow this link to find out more here

  • We can help anyone with a genetic skin condition including:

    albinism

    ectodermal dysplasia

    ehlers danlos syndrome

    tuberous sclerosis

    ichthyoses

    neurofibromatosis

  • this is anything that affects your muscles and nerves including:

    muscular and myotonic dystrophy

    spinal muscular atrophy

    charcot-marie-tooth

    malignant hyperthermia

    Plus many more

  • This refers to hearing loss that is present at birth or in the first 2 years of life.

    There are many genes that can cause hearing loss and there is a very good chance will will make a diagnosis for you.

  • We have an expert on the team! Meet Dr Goel with a keen passion for all things metabolic. There simply hundred of conditions of metabolic conditions:

    • PKU

    • MCADD

    • Gaucher and Tay-Sachs disease

    • mitochondrial disease

    • urea cycle disorders

    • Glycogen storage disease

    the list goes on….get in touch to discover Dr Goel’s brilliant mind.

There are over 7,000 known genetic conditions so there are too many to list.

It would be easier to list what we don’t do or, just get in touch and we’ll let you know if we can help.

Want personalised, precision medicine options?

learn more here

Where to now?

Your head thinks yep, I’ve got this, yet your heart feels there is still a piece of the puzzle missing.

I’m here to help you know the difference between your genes and your chromosomes, inherited and genetic (yes, there is a difference) and help with your genetic journey.

You know you can’t put this off for any longer, or you'll still be awake at night wondering what Google phrase might find you the perfect answer.

You’re ready to take the final step, only you’re a bit in the dark. You need someone to shine a light on your journey.

Start your journey with us and fill in the form below. If you can answer YES to any of the following, then let’s talk.

  • is there a known or suspected family history of a genetic condition? Have you been diagnosed with a genetic condition? Is there something running in your family?

  • are you concerned that something might be passed on to your children?

  • do you have a child with a health concern that might be genetic?

  • are you planning a pregnancy? Wondering what genetic tests might be good for you?

  • are you pregnant and wondering what tests, if any, might be available for you?

  • you returned a ‘high risk’ result on one of your pregnancy screening tests.

  • have you had three or more miscarriages or a stillborn baby?

  • you and your partner are related to each other, such as first cousins, and you need some extra care and understanding.

Let us help find the care that's right for you.