### My Health Record

All of our test results will be uploaded to [My Health Record (MHR)](https://www.vcgs.org.au/mhr-policy/) from mid July, unless you choose to opt out.

Service updates

From Monday 4 May, we’re making whole genome sequencing (WGS) more accessible for patients.  
It will be offered as our primary test option for the most comprehensive analysis and at reduced pricing.  
 
### What does this mean?
- WGS is available for the same reduced price as exome analysis:  
•	For all comprehensive test options.  
•	Where EDTA blood is provided.
- Exome sequencing - now with CNV analysis - remains available for patients where blood collection is not possible (ORAcollect saliva samples are suitable for exome). 

- Bulk billed testing (no out of pocket cost) for eligible paediatric patients under Medicare item numbers 73358 and 73359 available as:  
•	WGS analysis when blood provided.  
•	Exome analysis when saliva provided.
 
### What is the new pricing?
- Singleton WGS comprehensive (>400 genes +/- Mendeliome): $2695  
- Trio WGS comprehensive (>400 genes +/- Mendeliome): $3895  
- Rapid prenatal Trio WGS: $4195  
- Reduced pricing for all WGS focused (<400 genes) and targeted variant test options.

Visit our [genomics updates page](/genomics-updates/) for more details about these changes and the full list of updated pricing.
 
### How do I order?
Please order via our [online test request system](https://test-request.vcgs.org.au/).  


We now perform familial variant testing using **targeted exome** instead of Sanger sequencing.

Where VCGS has already identified the variant via exome, we will perform relatedness checks with existing data.

Where the variant has not been previously reported at VCGS via exome, a SNP-ID check will be performed to check sample provenance. 

The benefits of testing via exome include: 
- having exome data available for future use
- in most cases a positive control sample is no longer needed
- a second sample for predictive testing is no longer needed

For more information, visit our [familial variant testing page](https://www.vcgs.org.au/tests/cascade-family-testing/). 


As of 6 December 2024, we’re no longer offering the following tests:
- Huntington disease (HD) 
- Myotonic dystrophy (_DM1_) 
- Spinocerebellar ataxia (SCA type 1,2,3,6,7) 
- Dentatorubral-pallidoluysian atrophy (DRPLA) 
- Friedreich ataxia (FA) 
- Cardiac MLPA (Cardiomyopathy, Brugada syndrome, Long QT, Aortopathy) 
- _C9orf72_ 

Please see the [RCPA website](https://www.rcpa.edu.au/Manuals/RGTL) for a list of alternative laboratories.   


As of 6 December 2024, there have been some funding changes to the following tests:  

[Duchene Muscular Dystrophy/Becker Muscular Dystrophy (deletion/duplication) via Microarray](/tests/muscular-dystrophy/)
- Funded by Medicare for eligible patients 
- Up to $589.90 for non-Medicare eligible patients 

[Non-syndromic hearing loss: DFNB1 (Cx26 and 30)](/tests/connexin/) 
- $520/patient (diagnostic) and $450/patient (carrier) 

[Spinal muscular atrophy (SMA)](/tests/spinal-muscular-atrophy/)  
- _SMN1_ deletion testing: $333.20 
- _SMN1_ whole gene sequencing: $1097.60 
- Prenatal _SMN1_ deletion testing: $600 

Our turnaround time for blood G-banded karyotype tests is now **8-12 weeks**.  

This increase is due to the high volume of test requests we’ve been receiving.  

Samples received after 20 April will now be reported at approximately 8-12 weeks.  

Please consider this when booking your patients for their review appointments. 


Due to the public holidays over Easter and Anzac Day, our usual workflow and support services will be impacted.

**For samples collected before Good Friday:**

- Please send prenatal samples by Wednesday 16 April.
- If you can't meet this date, hold sending samples until Tuesday 22 April.

**For samples collected before ANZAC Day:**

- Please send prenatal samples by Wednesday 23 April. 
- If you can't meet this date, hold sending samples until Monday 28 April. 

**For all samples collected during this time:**

All samples collected during this time should be refrigerated (not frozen).
Please email the following information to us so we can effectively track samples:

- patient name and date of birth
- sample type (eg. AF, CVS)
- image of the request form
- courier company and consignment/tracking number

to prenatal.cytogenetics@vcgs.org.au and specimen.reception@vcgs.org.au

From 1 July 2025 the **price of percept NIPT is $475 (AUD)**. 

The new price will apply to samples with a collection date of **Tuesday 1 July** onwards.  


To ensure timely results and minimise recollections over the Easter period we have set collection and shipment cut-off dates for prepair and percept samples.

|Area|Last day of sample collection|Last day for sending shipment|Resume sample collection|
|-------|-------|-------|-------|
|Northern Territory and New Zealand |Friday 27 March |Friday 27 March |Wednesday 1 April |
|Rest of Australia |Thursday 2 April |Thursday 2 April |Tuesday 7 April |

_percept_ NIPT Streck tubes from Lot #42990315 expired on 2026-07-01 (YYYY-MM-DD).

Please work with your staff and collection sites to check and discard any expired stock.  

You can order replacement stock through our [General order form](/api/media/LSF-053-stock-order-form/).  


Streck tube stoppers are now a solid tan colour (previously camouflage).  
The label is now camouflage (previously grey). 

These new tubes will be included in your stock orders over the next few months.  

Please continue to use the current stock you have. Only discard tubes if they are expired.  

Due to limited storage and regulatory requirements, we are unable to **routinely** offer standalone services for DNA extraction, storage, retrieval and/or sendaway.  

Please [visit our DNA Extractions and Sendaways page](https://www.vcgs.org.au/extraction-sendaway/) for more information. 

Biotinidase testing results are now available on newborn bloodspot screening (NBS) reports.  

More information about this screening test can be found on our [NBS page](https://www.vcgs.org.au/newborn-bloodspot-screening/). 

Service updates

Service updates

My Health Record

Genomics

Cytogenetics

percept NIPT and prepair carrier screening

DNA extraction and sendaways

Featured tests

VCGS

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