Here is some more information on genetic disorders or if your doctor has recommended genetic testing.  

The cGH Array Test

One of the most common genetic tests ordered in children is called a cGH microarray.  There are many other genetic tests available however – please check with your doctor which test has been recommended for you or your child.

A Short Guide to cGH Microarray

This short guide is from the Victorian Clinical Genetics Service which offers saliva testing.  Not all pathology centres will offer this, however the other information on cGH array applies to all providers.

A Long Guide to cGH Microarray

For those who would like more information.

Information on Life Insurance and genetic testing (Australia)

Provided by the NSW Health Centre for Genetics Education
… They also have lots more Australian-based information on a range of genetic conditions

Genomic Testing

In March 2020, Genomic testing for children <10 years old was made available for free to children living in NSW, Australia who had EITHER

  • Dysmorphism AND one or more congenital structural abnormalities
  • OR Intellectual Disability in the Moderate Range

For more information on the indications, counselling and consent process for genomic testing, please click here to visit the excellent resources on

Information and Support for Genetic Disorders

Genetic Alliance Australia

The peak Australian body for information and support groups for people with genetic disorders

Factsheets on Rare Gene Disorders has high-quality, detailed information on many rare gene disorders

Down Syndrome

Information from Down Syndrome Victoria on what it means to have Down Syndrome

Reframing Disability

Reframing Disability is by and for families raising children with disability, supporting families to help their child achieve their full potential.

Rare Revolution Magazine

A first of ts kind, digital magazine giving a voice to those affected by RARE conditions and the charities that represent and support them.

Siblings Australia

Siblings Australia is committed to improving the support available for siblings of children and adults with chronic conditions including disability, chronic illness and mental health issues.

Syndromes without a Name Australia

Syndromes Without A Name (SWAN) Australia is a not for profit charity and the peak organisation supporting families who care for a child with an undiagnosed or rare genetic condition.

Searching for a Rare Diagnosis


Many genetic diagnoses are rare and it can take many years for a diagnosis. FindZebra is intended primarily for physicians and other professionals concerned with diagnosis of rare diseases, however we include it here for parents and families to see as it is freely available online.