Familial Cancer Testing involves testing patients with a family history of malignancy to determine whether they are at increased risk of malignancy due to inherited familial genetic variants (mutations).

Well-known familial cancer syndromes include Hereditary Breast and Ovarian Cancer (HBOC) syndrome and Lynch Syndrome.

A proportion of individuals with a family history of cancer may be at increased risk of malignancy through the inheritance of genetic variants (mutations) in certain genes. Testing for these genetic variants is important as it can determine risk or make a diagnosis, and may also suggest an appropriate prevention, surveillance, or treatment strategy.
In HBOC, there are a number of high and moderate risk genes which have been demonstrated to increase risk of breast and/or ovarian cancer.
Familial cancer testing may also be important in the area of colorectal cancer, with Lynch syndrome and Familial Adenomatous Polyposis being the most well known examples of hereditary colorectal cancer syndromes. More information on our testing in this area will be available shortly.
Bulk-billing for some familial cancer syndromes is available under certain conditions. For patients who do not meet MBS criteria, Genomic Diagnostics endeavours to bring you quality testing at an affordable price.

Breast & Ovarian Cancer Tests

$399*
BraOVO Panel 
  • 12 gene panel – ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
  • MBS Item 73296

Results available within  3 – 4 weeks

$395*
BRCA1 & BRCA2
  • BRCA1 & BRCA 2 genes
  • MBS Item 73295

Results available within 3 – 4 weeks

$300*
Familial Cancer
  • Single gene testing for known family pathogenic variant
  • MBS Item 73297

Results available within 2 –  3 weeks

* When MBS criteria are not fulfilled.

Hereditary cancers are those where altered genes contribute to an inherited predisposition to certain cancers. In breast cancer, 5-10% are due to inherited genetic alterations. These are most commonly identified in the breast cancer susceptibility genes, BRCA1 and BRCA2, but can also occur in other genes.

BRCA status can have significant implications for the therapeutic management of carriers. Cancer is complex, as one gene may be responsible for many different cancer types or many genes acting together may increase a woman’s risk of developing breast and ovarian cancer. Therefore, it is recommended these tests be ordered by, or in consultation with, specialists familiar with the implications for management.

Test NameBRCA 1 and 2 Genetic Testing
Clinical IndicationUsed to:
1. Determine eligibility for treatment with Olaparib under the PBS in patients with relapsed high grade serous ovarian cancer
2. Determine risk for patients with a personal and/or family history suggestive of Hereditary Breast and Ovarian Cancer Syndrome.
Gene(s)BRCA1, BRCA2
MethodMassively Parallel Sequencing
Turn around time4 weeeks
Medicare Eligibility73295 – conditions apply
Sample TypeBlood x 2
Collection Type10mL EDTA tube
Special Instructions2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing.
Some families may have an increased risk of developing certain types of cancer through the inheritance of variants (mutations) in certain genes. Testing for these genetic variants can determine whether a patient might be at increased risk of developing cancer and suggest an appropriate prevention or surveillance strategy. This test is Medicare eligible for those patients satisfying testing criteria. There are now Medicare rebates available for testing in women with breast and ovarian cancer who are at high (>10%) risk for detecting a genetic cause. Please refer to the Resources section for more information.
Test Name Breast/Ovarian Cancer BRaOVO Gene Panel
Clinical Indication Determine presence of pathogenic variations in patients with a personal and/or family history suggestive of high risk (>10%) of having Hereditary Breast and Ovarian Cancer Syndrome. Determine presence of pathogenic variations in patients with a biological relative with a confirmed pathogenic variation in one or more of the genes specified below
Gene(s) ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
Method Massively Parallel Sequencing & MLPA Massively Parallel Sequencing
Turn Around Time 3 – 4 weeks
Medicare Eligibility 73296 – criteria apply 73297 – criteria apply
Sample Type Blood x 2
Collection Type 10mL EDTA tube
Special Instructions 2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing.

 

Test NamePredictive familial cancer test
Clinical IndicationDetermine presence of mutations in patients with a biological relative with a confirmed pathogenic variation in one or more of the genes specified below.
Gene(s)ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
MethodMassively Parallel Sequencing
Turn around time2 weeks
Medicare Eligibility73297 – criteria apply and only particular genes covered
Sample TypeBlood x 2
Collection Type10mL EDTA tube
Special Instructions2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing.

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