Genetic disorders arise from a change in your DNA. Sometimes these changes have no obvious affect and we are totally unaware that they exist. Other times these changes can have an affect on our appearance and on our ability to do certain tasks, or become apparent when we start to try and conceive a baby.

These genetic changes may be:

  • a mutation (where a DNA base is substituted for another)
  • a deletion
  • a duplication
  • an inversion
  • a translocation (where part of one chromosome is transposed to another)

About Genetic Health Service NZ

Genetic Health Service NZ is a national service, with hubs covering three regions. The hubs are noted below.

You can find out more about the Genetic Health Service and how it works here.

Northern Hub - based out of Auckland Hospital and covering the upper half of North Island with outreach clinics in:

  • Whangarei Hospital
  • Manukau Super Clinic
  • Waikato Hospital
  • Tauranga Hospital
  • Rotorua Hospital
  • Gisborne Hospital

Central Hub - based out of Wellington Hospital and covering lower half of North Island and Nelson, with outreach clinics in:

  • Taranaki Base Hospital
  • Napier Health Centre
  • Whanganui Hospital
  • Palmerston North (The Palms Medical Centre)
  • Kenepuru Hospital
  • Hutt Hospital
  • Nelson Bays Primary Health Centre (Richmond)

South Island Hub - based out of Christchurch Hospital and covering the South Island (except Nelson), with outreach clinics in:

  • Grey Base Hospital
  • Timaru Hospital
  • Lakes District Hospital
  • Dunedin Hospital
  • Southland Hospital

Referral process for genetic testing

You will need a referral from your GP or specialist, You can find out more here

Private Genetic testing

Please note this is not an exhaustive list. Please discuss further with your healthcare providers.

Healthpoint directory

Fertility Associates

Illumiscreen

Genetic Insight

Innovative Genomics (IGENZ)

Sequenca Genetics

Riddiford Medical

Rare News

Our Collective

Rare Disorders NZ is the collective voice of all people living with a rare disorder and their whānau. Our rare collective is made up of more than 150 disorder-specific support groups. Our work is informed by the issues important to our collective, and we work together to improve healthcare and wellbeing for everyone living with a rare health condition in New Zealand.

Learn more