Beacon Expanded Carrier Screening

Beacon Expanded Carrier Screen

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.

Why choose the Beacon expanded carrier screen?

We have carefully evaluated the potential performance of nine popular carrier screens provided by laboratories in Australia and overseas. The number of genes tested by these laboratories varied from three to >400. Sonic Genetics assessed the value of each test by calculating the proportion of Australian couples who would be identified as being at high risk of having a child with an autosomal recessive or X-linked recessive disorder (see Figure).

The best performance by far was obtained by the Beacon Expanded Carrier Screen. Approximately one in 20 couples (5%) would be identified as being at 25% risk of having an affected child.

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 carrier screen (link below). 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.

Sample collection

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.

Price

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.

Turnaround time

Once the sample is received at our laboratory, the results will typically be available within four to five weeks.

Genetic counselling

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.

Privacy

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.

Resources

Information for Doctors

Technical Bulletin (FAQs) for Doctors

Information for Patients

Information for Patients – Chinese

Expanded Carrier Screening Request Form

Test Details

Genetic Counselling

Technical Bulletin – Gene List (By Gene)

Technical Bulletin – Gene List (By Disease)