myLifeExome

Unlock genetic insights at a lower cost

Whole exome sequencing (WES) offers a comprehensive approach, sequencing the exons of all protein-coding genes plus thousands of known disease causing variants and the mitochondrial genome. With WES you can identify potential disease-causing variants that may have been missed by previous tests. While the exome represents only 1-2% of the human genome, it contains approximately 85% of the known disease-related variants.

Cost-Effective: Opt for whole exome sequencing to provide essential genetic insights at a more affordable rate compared to whole genome sequencing
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 exome sequencing

Who can benefit from myLifeExome:

Patients experiencing clinical symptoms of uncertain origin or those with a confirmed family history of a suspected hereditary condition
Patients who remain undiagnosed following single-gene or targeted panel testing
Patients with complex and heterogeneous symptoms that might suggest the presence of multiple underlying conditions, facilitating a more precise and accurate diagnosis
Patients with disorders caused by genetic mosaicism, for example RASopathies or vascular malformations

myLifeExome Reports

myLifeExome reports contain primary findings, incidental findings and carriership findings.

Variant categories detected in nuclear and mitochondrial genomes

Variant Type	Definition	myLifeExome
Single nucleotide variants (SNVs)	A DNA sequence variant affecting 1 nucleotide	All protein-coding
Insertion / Deletion (In-dels)	Deletions, insertions, or duplications of DNA segments less than 500bp	All protein-coding
Copy number variants (CNVs)	Deletions or duplications of DNA segments of at least 500bp	Limited
Structural variants (SVs)	Insertions of DNA segments of at least 500bp, inversions and translocations (including translocations between nDNA and mtDNA)	Limited
Repeat expansions	Increase in the number of repeated DNA sequence motifs within a gene	No
Chromosomal abnormalities	Monosomy, trisomy, uniparental disomy, triploidy	All

myLifeExome Test Offering

TAT

Up to 20 working days from sample receipt

Library kit

Twist Human Core Exome + RefSeq spike-in + Mitochondrial Panel

Coverage

Mean coverage: min. 100x, 99,7% of target is covered by min 20x

Method & Platform

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

Types of Variants detected

Single-nucleotide variants, small insertions & deletions, copy number and mitochondrial variants

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.