TESTS

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 sequence the protein-coding regions (exons) of genes in the genome and 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 (1 to ±5000) included in the Mendeliome*. 

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

SPECIMEN REQUIREMENTS

DNA

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

• DNA extracted from EDTA blood or saliva in a NATA accredited clinical laboratory.
• Concentration ≥ 30ng/μL (total amount around 3μg; OD260/280 1.6-2.2).

For any queries regarding sample requirements please contact us.

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 availability of new evidence and gene-disease associations may change over time. This analysis is based on 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.

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

HOW TO ORDER A TEST

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