Our Tests

Beacon Expanded Carrier Screen

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Purpose

This is a screen to identify carriers of 299 autosomal recessive mutations and (for female patients) 28 X-linked recessive mutations which cause serious childhood-onset disorders. Approximately 70% of Australian individuals are identified as carriers for one or more disorders using this investigation. Most carriers do not have a family history of relatives affected by the disorder and are unaware that they are carriers.

Approximately one in 30 Australian couples will be found to have a one in 4 chance of having a child with one of these three conditions.

Clinical Utility

The result provided will indicate whether a mutation was found, and the implication for the patient. If both partners of a couple are carriers of mutations in the same genes, there is a one in 4 chance of them having a child with that disorder. If the female partner is found to be a carrier of an X-linked recessive mutation, there would be a one in 4 chance of their child i.e. a one in 2 for their son, having the disorder.

It is important to understand no preconception carrier screen is able to detect every mutation that causes the genetic conditions covered by this screen. Therefore, a ‘no mutation’ result does not eliminate the risk to the patient of having a child affected with a genetic disorder.

Our clinical and scientific experts have selected the most common mutations and best technology available to detect the vast majority the relevant mutations for these three most common inherited conditions.

Depending on the results provided, referral for genetic counselling and discussion of reproductive options may be appropriate.  A list of private and public providers of clinical genetics and genetic counselling services is available from Sonic Genetics on request. For couples who are identified as being at high risk 25% of having an affected child, Sonic Genetics offers free genetic counselling.

Genes

Please refer to our Information for Doctors brochure.

Test Method

DNA is extracted from the sample at the NATA-accredited Sonic Healthcare genetics laboratory in Sydney at Douglass Hanly Moir Pathology. The extracted sample is then sent to the Fulgent Genetics laboratory in California for analysis. The coding region of each gene is sequenced and examined for pathogenic mutations and deletions. This analysis detects >98% of documented mutations in these genes. The Fulgent Genetics laboratory is accredited. Click here to visit the Fulgent website.

Test Ordering

This test can be requested by any medical practitioner.

4 mL blood in EDTA (separate tube required).  Specimens may be collected at any Sonic Healthcare pathology collection centre.

To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible, i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.

We recommend that the patient or another adult check the labelling of request forms and sample tubes.

Special Instructions

Please note whether or not the patient has a family history of a single-gene disorder on the referral form. If there is a family history, please provide as much information as possible about the family pedigree and any previous testing with results (if available). If the partner is being tested at the same time, please ensure their details are noted on the request form and vice versa.

Price

$995

If a couple is screened at the same time, there is a 12.5% discount, i.e. the price for screening both partners is $1,750.

Medicare Rebate

This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.

Turnaround Time

3-4 weeks.