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 (FAP) being the most well known examples of hereditary colorectal cancer syndromes.
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.

Hereditary 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 & BRCA2 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

Familial Colorectal Cancer Tests

$479*
Lynch Syndrome Panel 
  • 5 gene panel – MLH1, MSH2, MSH6, PMS2 & EPCAM
  • MBS Item 73354

Results available within  3 – 4 weeks

$479*
FAP/MAP Panel
  • APC & MUTYH genes
  • MBS Item 73355

 

Results available within 3 – 4 weeks

$300*
Colorectal Cancer Predictive Test
  • Single gene testing for known family pathogenic variant
  • MBS Item 73357

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 NameBRCA1 and BRCA2 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.
Colorectal cancer is the third most common type of newly diagnosed cancer in Australia. It is estimated that 30% of patients with colorectal cancer have a family history of the disease, and up to 10% have genomic variants associated with inherited cancer syndromes including Lynch syndrome (LS). A diagnosis of LS is confirmed by the detection of a pathogenic germline variant in one of the MMR genes (MLH1, MSH2, MSH6 and PMS2) or the EPCAM gene.
Test Name Lynch Syndrome Gene Panel
Clinical Indication Used for investigation of Lynch Syndrome in patients with colorectal cancer or endometrial cancer where there is a familial risk of ≥10%.
Gene(s) MLH1, MSH2, MSH6, PMS2, EPCAM
Method Massively Parallel Sequencing
Turn around time 4 weeks
Medicare Eligibility 73354 – conditions 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.

Guidelines recommend testing to confirm the diagnosis of an inherited CRC syndrome in a patient with a personal history of disease in the following circumstances:

    • APC gene testing is indicated in patients with ≥10 colorectal adenomas before age 30, or ≥20 colorectal adenomas regardless of age.
    • MUTYH gene testing is indicated for patients with ≥20 colorectal adenomas at any age, but could also be considered in patients with fewer polyps following review by a familial cancer service, and patients with an FAP phenotype but no identifiable APC variant.
 
Test NameFAP Gene Panel
Clinical IndicationUsed for investigation of FAP/MAP in patients with adenomatous polyposis where there is a familial risk of ≥10%.
Gene(s)APC, MUTYH
MethodMassively Parallel Sequencing
Turn around time4 weeks
Medicare Eligibility73355 – 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.
Test NameColorectal cancer predictive 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)MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH
MethodMassively Parallel Sequencing
Turn around time2 weeks
Medicare Eligibility73357 – criteria 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.

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