Beacon expanded carrier screening
This screen is designed to identify carriers of autosomal and X-linked recessive disorders which are serious, have childhood-onset, and for which there are limited therapeutic options. This test does not include mild disorders, autosomal dominant disorders, adult-onset disorders, or disorders for which there are effective interventions available in Australia, e.g. haemochromatosis, Factor V Leiden, MTHFR variants, and familial breast cancer.
Detection rates and test limitations
The analytical detection rate for all genes screened in the Beacon expanded carrier test is >98%. There remains a small chance that a person will have an undetected mutation in a gene and hence be an undetected carrier for a specific disorder. The Beacon report provides an estimate of this ‘residual risk’ of being an undetected carrier for an individual or couple.
How to order
Please use our dedicated request form for the Beacon expanded reproductive carrier screen. By using this form, you are prompted to provide information that is necessary for us to provide an accurate interpretation of the genetic analysis. This form also provides billing and collection information for the patient.
Please ensure that details of carrier screening for the reproductive partner are included on the request form if applicable and that both partners have their own fully completed request form signed by each other.
Samples may be collected at any Sonic Healthcare pathology collection centre.
We require 1 x 4 mL blood in an EDTA tube. Buccal swabs can be used by prior arrangement, however, this method of collection is not recommended because it does not provide DNA of equal quality and quantity to that of a blood sample.
The price per patient for the Beacon screen of >400 genes (females) or >350 genes (males) is $595. Please note that we do not offer to screen the X-linked genes for unaffected men as their children are very unlikely to be affected by a mutation in such a gene.
Payment is required before the test is performed. Please refer to the request form for payment details.
There is no Medicare rebate for carrier screening. If there is a family history of a known mutation, such as fragile X or cystic fibrosis, the Beacon expanded carrier screen is not the appropriate test, so please check with the laboratory.
Once the sample is received at our laboratory, the results will typically be available within three to five weeks.
Couples tested by Sonic Genetics and found to be at high risk of having an affected child will be offered genetic counselling free-of-charge, upon referral from your doctor. Full details can be found here.
Samples will be transported to Fulgent Genetics in the US for analysis and interpretation. This means that patient personal information will be subject to the privacy and data protection rules of Fulgent Genetics in the US, which may be different from those of Australia.
A couple report will not be produced unless both partners provide consent for their results to be shared with each other and their healthcare provider.
- Disease risks for carriers
- Expanded reproductive carrier screening request form
- Test details
- Genetic counselling
- Gene list (by gene)
- Gene list (by disease)
Order Beacon through Genie, Best Practice and Medical Director
Information for patients:
- Information for patients - English
- Information for patients - Arabic
- Information for patients - Chinese
- Information for patients - Korean
- Information for patients - Vietnamese
- Information for patients – When both partners are carriers for the same autosomal recessive condition
- Information for patients – When only one partner is a carrier for an autosomal recessive condition
- Information for patients – When the woman is a carrier for an X-linked recessive condition
- Information for patients – When neither partner is a carrier for an autosomal or X-linked recessive condition
- Centre for Genetics Education (NSW Health) life insurance and genetic testing.