InsightDx™

Clinical Exome Sequencing

Cost-Effective Solutions for Clinical Diagnostics

Whole exome sequencing (WES) employs high-throughput sequencing of more than 20,000 genes per individual, enriched through sequence capture technology. WES targets all protein-coding regions (~1% of the whole genome) responsible for 85% of known disease-causing variants. It allows for molecular diagnosis of genetic diseases and enables the exploration of novel mutations and new pathogenic mechanisms. Compared to whole genome sequencing, WES has the advantage of a greater sequencing depth and delivers more effective data.

For patients with symptoms of genetic disorders, clinical WES plays an important role in quickly identifying potential variants. Clinical exome sequencing offers a one-step solution for challenging issues, such as diagnosing patients with genetic heterogeneity or atypical presentation, where it is unclear which genes are causing the specific genetic condition.

When is Clinical WES Recommended?

Preventive cares. Genetic risk assessment and screening for healthy individual in order to predict and potentially prevent the onset of diseases.
Family planning & carrier screen. An accurate and safe DNA testing to check if you are a carrier for certain genetic conditions and understand if you have a higher chance to have a child with that condition.
Complex medical problems and rare diseases. Patients with symptoms that are very broad, complex, or unspecific, not pointing towards a specific disease or typical phenotype, or patients with a long list of inconclusive prior differential diagnoses, or who have exhausted other testing options.
When a rapid diagnosis is a medical necessity. When there is no time for serial testing strategies, a rapid diagnosis can be critical for timely clinical decision-making in critically ill newborn infants and children in the Neonatal Intensive Care Units (NICU) or Paediatric Intensive Care Units (PICU).

Overcoming the Obstacles of Rare Disease Diagnostics with WES

With more than 7,000 identified rare diseases and approximately 80% being linked to genetic causes, diagnosing rare disease patients can often be difficult – resulting in lengthy, expensive, and emotional diagnostic odysseys1,2.

With WES, this doesn’t have to be the case. Containing the majority (~85%) of known disease-causing changes, WES uncovers the cause of rare diseases in less time and at a lower overall cost – leading to better patient outcomes. The Results: Diagnosing complex and unsolved patient cases – quicker and with the highest levels of certainty.

Best-in-Class Insights by the Leader & Trusted Partner in Rare Disease Diagnostics

When choosing our WES, physicians, patients, and partners can feel confident that they will receive high-quality sequencing combined with best data analysis and interpretation, documented in comprehensive medical reports. By combining deep phenotype data with genotype data using our advanced bioinformatics pipeline, we accurately identify and prioritize disease-causing variants to deliver best-in-class clinical interpretation and reporting. Test reports always contain clear actionable clinical results, recommendations, and follow-up options.

Features & Performance

Broad and uniform exome coverage	Mean depth ≥100X Highly uniform coverage of the entire exome (~20,000 genes); with ≥ 98.0 % target regions covered at ≥20X
Enhanced coverage of clinically relevant regions	~8000 disease-associated genes with ≥99.0 % target regions covered at ≥20X >99,0 % of all known clinically relevant variants in coding and non-coding regions.
Advanced and sensitive detection of nearly all types of variants in one single test	Highly sensitive and specific detection of SNVs, InDels, CNVs of exon-level to cytogenomic-level changes. Sensitivity SNVs and InDels (≤55 bp) >99.6% CNVs (≥3 exons) >95.0% Specificity of >99.9% is guaranteed for all reported variants

SNVs: single nucleotide variants; InDels: small insertions/deletions; CNVs: copy number variations.

Sample Preparation Instructions

All clinical materials should be collected with approved methods to avoid contamination and cross contamination. A sterile environment must be maintained when collecting samples. Our sample preparation requirements are detailed in the table below:

EDTA Blood	≥ 1 mL
Buccal swab	1 Oragene™ OCR-100 buccal swab collection set
Saliva	1 Oragene™ OG-610 saliva collection set
Ready to use DNA	≥ 1 µg For DNA samples, we recommend extraction using Qiagen kits, elution in water in 20 µL volume (min), plus evaluation of 260/280 Ratio (1.6 - 2.1) and fluorescent dye quantification of concentration (> 10 ng/µL) before sending.

Sample Transport

EDTA Blood, buccal swabs, saliva, and DNA samples can be sent via regular mail at room temperature. Liquid blood is stable for up to 4 days during transport.

Shipping Instructions

Sample should be sent to:

AGTC Genomics Sdn Bhd (1428365-D)
J2-1, Pusat Perdagangan Bukit Jalil,
Jalan Persiaran Jalil 1,
Bukit Jalil,
57000 Kuala Lumpur,
Malaysia

References

1. Lionel et al. 2018, PMID: 28771251
2. Sanghvi et al. 2018, PMID: 9144510
3. Clark et al. 2018; PMID: 30002876
4. Stavropoulos et al. 2016, PMID: 28567303
5. Bertoli-Avella et al. 2020, PMID: 32860008
6. Bick et al. 2019, PMID: 31023718