Genomic Sequencing

WHOLE EXOME SEQUENCING

We offer a genomic sequencing service in the form of clinically indicated phenotypically driven exome sequencing.

Exome sequencing is a genomic sequencing technique that sequences the protein-coding regions (exons) of genes in the genome, It is used to investigate complex health and developmental disorders.

Exome sequencing may be useful for individuals with:

• Complex phenotypes with multiple differential diagnoses
• Genetically heterogeneous disorders
• Suspected genetic disorders where a specific genetic test is not available
• Inconclusive previous genetic testing

TEST PRICE

Exome singleton analysis includes any number of genes, ranging from 1 to 5,000*, included within the Mendeliome. 

Mendeliome - Of the approximately 20,000 genes that code for proteins, about 5000* are known to be linked to monogenic disease.

How to Order a Test

Testing can only be requested by a qualified specialist clinician, such as a geneticist, paediatrician, endocrinologist, or similar healthcare professional.

To initiate the testing process, please schedule an appointment with your designated specialist clinician.

During your consultation, your specialist clinician will download and complete the Test Request and Consent Form for your signature. Once signed, the form, along with any supporting documentation, will be forwarded to RGT.

Additionally, the Sample Collection Form will be provided for your signature. Please take this to an ACL collection centre to provide the required sample. 

TEST INFORMATION AND LIMITATIONS

Analyses for clinical exome sequencing is performed using genes specific to the patient phenotype. The scope of the assay is limited and validated for detecting only single-nucleotide variations, multi-nucleotide variants, and small INDELs. This assay is unable to detect copy number changes, large INDELs, repeat expansions, homopolymers >10bp, low-level mosaicism, and epigenetic changes. Sequencing coverage is variable between samples, and variants at regions of low coverage may not be detectable. Tissue-specific alternative transcripts are present for certain genes. Variants that are protein-coding in an alternative transcript may not be captured if they are located beyond 10bp from the exon/intron boundaries of the consensus transcript. Pseudogenes or highly homologous sequences may reduce the mapping quality of the sequence reads and therefore reduce the sensitivity of variant detection. Variant curation is dependent on stated familial relationship and phenotype and can vary between laboratories. Interpretation may improve upon the availability of new evidence, and gene-disease associations may change over time. This analysis is based on the best evidence available at the time of reporting. The laboratory does not re-analyse data routinely. If clinically indicated, please contact the laboratory to request re-interpretation of data.

Please note: This test is for heritable germline mutations and should not be used for the detection of somatic mutations in tumour tissue.