Carrier Screening Assays

AGRF is your trusted partner in world class clinical genomics, delivering high quality insights
to genetically inherited conditions.

Laboratory Offerings For Expanded Carrier Screening

Spinal Muscular Atrophy (SMA): SMN1/SMN2^+

Spinal Muscular Atrophy (SMA) is primarily linked to variants in the SMN1/SMN2 genes, and is a common recessive neurodegenerative disorder and a critical target for carrier screening. With one in 40 individuals being carriers1, this assay helps determine accurate carrier status for Spinal Muscular Atrophy caused by SMN1/SMN2 gene variants with our CarrierMax™ service.

Fragile X: FMR1 ^+

Fragile X syndrome, a genetic condition caused by variations to the FMR1 gene on the X Chromosome, can lead to a range of physical, developmental, behavioural and emotional difficulties in people.2 AGRF utilises the CarrierMax™ FMR1 carrier screening assay to detect the number of CGG repeats in the FMR1 gene, helping provide valuable information into the risk of passing on these variants to children and allowing informed family planning decisions.

Whole Exome for Expanded Carrier Screening:^+

Discover the power of the Twist Exome 2.0 panel (36.5 Mbp) designed for detecting rare disease, inherited conditions as well as germline cancers. Delivering high-quality data with superior coverage based on major genetic databases (RefSeq, CCDS, GenCode, ClinVar, ACMG73), addressing inherited diseases including cystic fibrosis (CFTR) and targeting other clinically relevant markers.3 Additionally, you have the option to include the mtDNA genome as a spike-in probe set upon request, or you can introduce your Twist compatible probe spike-in for a customised service. Additional charges may apply.

For more information, go to our Whole Exome Sequencing Service Guide.

* For samples passing AGRF QC requirements. Turn-around time does not include DNA & RNA extraction performed by AGRF.
^ Please note that AGRF do not provide these assays to the public. We partner with healthcare providers to offer carrier screening.
+ We offer delivery of raw data. Contact us should you require variant calling.

References

  1. Better Health Channel - Spinal Muscular Atrophy, accessed 18 October 2023,
    Spinal Muscular Atrophy
  2. Better Health Channel - Fragile X Syndrome, accessed 18 October,
    Fragile X
  3. Exome 2.0 - Twist BioScience, accessed 15 October 2023,
    Twist BioScience Exome 2.0
  4. Alliance Panels - Twist BioSicence, accessed 15 October 2023,
    Twist Bioscience Alliance Panels

Contact one of our experienced clinical team.

Your trusted partners. Excellence in quality and expertise.

 

Dr Mathi Appavoo
Clinical Genomics Specialist
M: +61 456 435 712
E: Mathi.Appavoo@agrf.org.au

Providing screening
for three of the most common inherited genetic diseases impacting Australian children.

CFTR - Cystic Fybrosis (CF)
SMN1 - Spinal Muscular Atrophy
FMR1 - Fragile X Syndrome

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