Splice variant submission form

Genomics Health Futures Mission RNA4RD (RNA for Rare Disease) project.

Disease-agnostic, nationally-accessible pipelines of clinical RNA Diagnostics


! Temporary halt on case review and RNA4RD ascertainment for non-urgent cases from December 1st 2023 until January 21st 2024.

Kids Neuroscience Centre’s Professor Sandra Cooper is leading a national, collaborative project to embed RNA Diagnostic testing into clinical practice. Genetic disorders affect 1 in 100 individuals. A precise genetic diagnosis is the key to personalised healthcare, disease prevention, and sometimes a cure or treatment. For the 50% of families undiagnosed after DNA testing, the answer can lie in their RNA. RNA4RD will integrate RNA diagnostics into mainstream clinical practise, vastly improving diagnoses of families living with rare genetic diseases or inherited cancer predisposition and revolutionising their personalised health care options.

RNA4RD Investigator Team: CIA Cooper, CIB Bennetts, CIC Buckley, CID Sandaradura, CIE Arts, CIF Eyras, CIG Tudini, CIH Lundie, CII Davis, CIJ Brown, CIK Chong, CIL Goranitis, CIM Goel, CIN Dudding-Blyth, CIO Richmond.  AIA Scott, AIB Spurdle, AIC Christodoulou, AID Tchan, AIE Sue, AIF Winship, AIG Fennell, AIH Rambaldini, AII Gwynne, AIJ Wallis.

Our thanks to the Australasian clinical genetic and diagnostic genomic pathology communities, and to our funding partners Sydney Health Partners, Luminesce Alliance and the Medical Research Futures Fund Genomics Health Futures Mission, for their iterative support of this pioneering study of clinical RNA Diagnostics.


  1. Temporary halt on review and RNA4RD ascertainment of non-urgent cases  for the Christmas period from December 1st 2023 – January 21st 2024.   

  1. Submit splicing variants to the portal below and we will reply (typically within 7 days) on our opinion on the likelihood of being a splice-altering variant and our recommendation for RNA studies.

  2. Links are at the bottom of this page to download further information on Sample collection and delivery to our laboratory, and Ethics consent forms and information sheets.

  3. Our 2022-2024 MRFF GHFM RNA4RD grant can support costs of testing for 100 cases that meet ascertainment criteria (currently being refined). Cost recovery rates of $2,600 can be offered for other cases.  Current inclusion criteria:
    Context 1:
    (a)    Presumed monogenic Mendelian disorder; and
    (b)    Identified putative splicing variant in a gene phenotypically concordant with clinical presentation; and
    (c)    Variant allele frequency consistent with disease incidence; and ideally
    (d)    Variant segregates with disease.

    Context 2:
    (a)    “Single Hit” for a biallelic disorder, OR, “No Hit” for a monoallelic disorder, AND
    (b)    Phenotype is highly specific for a disease with one or only a few associated disease genes, AND 
    (c)    another diagnostic test or established clinical biomarker is strongly indicative of one or only a few known associated gene(s)

  4. Before we can begin RNA testing, we require details of ALL variants in the target gene (common or rare). We use heterozygous variants to phase from which allele transcripts are arising.  Their availability (or not) dramatically influences our RNA Diagnostic strategy.

  5. Estimated time-to-reporting is 4-6 months.

  6. A rapid RNA Diagnostic testing pipeline (PCR-based) remains available for cases with clinical urgency (check box in the submission form).  Unfortunately, primer synthesis no longer occurs in Australia and primers now take ~1 week to arrive.  Fastest possible TAT is around 3 weeks.

  7. Collaboration with diagnostic pathology laboratories toward accredited pipelines of RNA Diagnostic testing: When deemed clinically appropriate, we may request two tubes of whole blood collected in a PAX RNA tube (2-3 mls each tube).  One tube will be analysed as usual by our laboratory and the other in evaluation trials in Pathology laboratories. Please note that one PAX tube is sufficient and provision of two tubes of blood is voluntary.  We understand that in some situations taking a second tube of blood may not be appropriate.

  8. Completion of the Kids Neuro Biobank consent forms are a required prior to RNA testing. A link to our consent from can be found below.


Click here to submit a splice variant

Key information sheets