Maximise clinical utility in genetic testing​​

Whole genome sequencing (WGS) is an advanced genetic analysis technique that is gaining recognition as the first line genetic test of choice in routine clinical settings [Ref ↗︎] because it goes beyond the conventional scope of targeted tests. It encompasses the coding regions, the non-coding regions as well as the mitochondrial DNA (mtDNA), which provides a comprehensive view of your patient’s genetic make-up and maximises the value.

  • Transform Patient Management: diagnostic genome findings can lead to tangible changes in patient management for up to 77% of patients
  • Shorten Diagnostic Journey: WGS offers significant potential and can end the diagnostic odyssey for 20-60% of neonates and 17-40% of pediatric patients with suspected genetic diseases.
  • Cost-Effective Solution: WGS as a first-line test may provide cost-effective solutions for patients suspected of rare diseases compared to alternative genetic tests
  • Supported by Guidelines: endorsed by the Medical Genome Initiative and incorporated into clinical practice guidelines by the ACMG and ESHG, WGS is recommended as a primary diagnostic tool for suspected rare genetic diseases


  • Highest clinical utility: capture the widest spectrum of variant types (SNVs, Indels, CNVs, structural variants, repeat expansion, etc.) to achieve timely diagnosis of rare diseases
  • Efficient turnaround time: expedite your patient’s insights with results available in no more than 20 days post-sample receipt
  • Re-evaluation: benefit from two follow-up analyses within 12 months, enhancing the continuous clinical utility of whole genome sequencing
  • Pharmacogenomics included: tailor prescriptions based on an individual’s genetic profile to enhance patient care

Who can benefit from myLifeGenome

  • Patients with broad, unspecific or overlapping phenotypic features that may not clearly point to a single specific disease
  • Individuals whose clinical manifestations are unclear or atypical, where traditional diagnostic approaches may prove insufficient in identifying the underlying cause
  • Cases of pediatric patients exhibiting complicated clinical features that indicate an underlying genetic disorder, a single diagnostic test can facilitate a swift diagnosis and potential treatment

Assess treatment responses with pharmacogenomics: an integral part of the myLifeGenome report

The pharmacogenomics (PGx) section includes 81 gene-drug associations. It indicates how a patient’s genetic profile influences the response to medications and can facilitate a personalized treatment plan by

  • optimizing drug selection and dosage
  • identifying patients at risk of adverse reactions
  • streamlining the trial-and-error process often associated with finding the right treatment

Variant categories detected in nuclear and mitochondrial genomes

Variant Type Definition myLifeGenome
Single nucleotide variants (SNVs) A DNA sequence variant affecting 1 nucleotide All
Insertion / Deletion (In-dels) Deletions, insertions, or duplications of DNA segments less than 500bp All
Copy number variants (CNVs) Deletions or duplications of DNA segments of at least 500bp All
Structural variants (SVs) Insertions of DNA segments of at least 500bp, inversions and translocations (including translocations between nDNA and mtDNA) All
Repeat expansions Increase in the number of repeated DNA sequence motifs within a gene Most
Chromosomal abnormalities Monosomy, trisomy, uniparental disomy, triploidy All

Technical description


Up to 20 working days upon sample receipt

Library kit

Illumina TruSeq Nano DNA High throughput library prep kit


Mean coverage: 30x, 99% of target is covered by min 10x

Method & Platform

Next-generation sequencing: Illumina NovaSeq 6000 or NovaSeqX (Plus)

Types of Variants detected

Single-nucleotide variants, small insertions & deletions, copy number variants, repeat expansions (confirmation testing recommended), structural variants, mitochondria

Sample Types

We accept buccal swabs, blood, DBS cards, saliva and isolated DNA

Contact us

We can help. Our team of experts is on hand to answer your questions.