Definition

It reads the entire genome, both the protein-coding (exome) and the non-coding regions.

Advantages over WES:

  • Can detect intronic and regulatory region variants
  • Can see structural changes better
  • Repeat expansion disorders, Genetiks' 360 Plus package covers close to 50 of these

Risks and Limitations

  • It is the test with the highest VUS burden, millions of variations are found across the genome
  • Complexity of interpretation, the meaning of variants in non-coding regions is often unknown
  • Data storage and privacy, the amount of data generated is very large
  • Cost and turnaround time are greater than for WES

Related Tests

WES (Whole Exome Sequencing)

The exome is the protein-coding part of the genome; it covers roughly 1-2% of the whole genome, yet the great majority of known disease-causing variants are located here. WES

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CES (Clinical Exome / Next-Generation Diagnostic Panel)

Instead of the whole exome, this sequencing test focuses on gene regions with a known association with disease. Genetiks' definition

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Karyotype (Chromosome Analysis)

Examines the number, size and shape of the chromosomes in a cell sample. It shows whether a person has the 46 chromosomes (23 pairs) that are typically expected and whether any

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Other related tests not yet in the glossary: Microarray.