Whole Exome Sequencing (WES) focuses on the protein-coding regions of the genome – known as the exome – where most disease-causing genetic variants are found. With enhanced coverage of known disease-associated genes and curated analysis of deep-intronic variants, WES offers a powerful approach for identifying the genetic basis of inherited conditions.
Single nucleotide variants (SNVs) and small insertions/deletions
Copy number variants (CNVs) ≥ 3 exons with high reliability
Smaller CNVs may also be detected; however, confirmatory testing is recommended if a smaller CNV is suspected
Detection of microdeletions/duplications > 500 kb in clinically relevant regions (follow-up testing may be required to confirm size and breakpoints)
WES may be recommended for:
| Specimen Requirements | |
|---|---|
| Clinical usage | Sequencing of the whole exome with a mean coverage of 100x, enhanced coverage of known disease-causing genes, and curated deep-intronic variants. • Reliably detect the majority of copy number variations (CNVs) of 3 exons or greater • Smaller CNV events may also be detected and reported, but additional follow-up testing is recommended if a smaller CNV is suspected. • The assay will also detect microdeletion/duplication events greater than 500kb in clinically relevant regions, although follow-up testing may be warranted to better delineate the exact size of the event and confirm breakpoints. The specimen will be tested by our qualified referral lab NOTE (Applicable for WGS and WES): – All variants are analyzed according to American College of Medical Genetics and Genomics (ACMG) guidelines, and pathogenic, likely pathogenic, and variants of uncertain significance (VOUS) are reported. Variant analysis is phenotype-driven to minimize the reporting of VOUS. – Familial testing for VOUS is complimentary for up to two variants in two family members. – One complimentary reanalysis is included and can be requested at any time. |
| Type of sample | For fetus: • 20ml Amniotic Fluid (Sterile 15mL conical tubes) • 10 – 15pcs Chorionic Villus Sample (CVS) (Sterile 15mL conical tubes with Normal Saline) • 30mg Tissue of Product of Conception (POC) (Sterile 50ml conical tube with Normal Saline) • 1ml Fetal Blood (EDTA Tube) IMPORTANT: • For fetus sample, 3ml Maternal Blood (EDTA Tube) is compulsory to rule out maternal cell contamination PRENATAL POLICY: WES/WGS can ONLY be performed on affected fetus with prenatal indications. Hence, the WES/WGS cannot be used to screen prenatal samples without any clinical indication. There is NO secondary finding option for ongoing pregnancy. For newborn baby: • Dried Blood Spots: 5 spots (DBS card) • 1ml Blood (EDTA Tube) For individual: • Dried Blood Spots: 5 spots (DBS card) • 3ml Blood (EDTA Tube) • Buccal Swab (2 swab samples in Sterile Container, WITHOUT Gel) NOTE: DBS card will ONLY be provided upon request |
| Patient requirement | – Gestation age CVS: 10 – 12 weeks – Gestation age for Amniotic Fluid: ≥15 weeks – No fasting required IMPORTANT: • Please sign the International Informed Consent form • Please sign and tick the appropriate selection in the Patient Secondary Findings Consent and Family Member Consent to Testing (if TRIO) sections in the consent form NOTE: Patient’s clinical presentation is an essential part of fully interpreting genetic test results. Kindly include any applicable medical records or clinical notes with the sample at the time of test submission. |
| Storage & transportation | Sterile Tube / EDTA Tube – Please store at 4°C if to be kept overnight Buccal Swab / DBS card – Please store at room temperature |
| Turnaround Time (TAT) | WES Proband: 5 – 6 weeks WES Trio: 7 – 8 weeks |
Allow us 2-3 days on weekends to tend to your enquiry.
Phone:
+603-7491 1700
Hotline:
+6019-600 2700
Fax:
+603-7499 3997
Our Services
Our Tests
Phone: +603-7491 1700
Hotline: +6019-600 2700
Fax: +603-7499 3997
Monday-Friday
8.30 am – 5.30 pm
Saturday
8.30 am – 1.00 pm