Question 1

Who is eligible for XOME cWES?

Accepted Answer

cWES suits patients with abnormal clinical manifestations suspected to be hereditary, individuals with a family history of monogenic disease, and couples after an unexplained miscarriage. It is most useful when prior workup has not reached a diagnosis or when phenotypes are too complex for a targeted panel.

Question 2

What is the turnaround time for cWES?

Accepted Answer

Standard turnaround is 26 working days, calculated from sample acceptance at the Hong Kong centre to report release from the Wuhan laboratory. Trio analyses follow the same TAT once all family samples have been received. Geneticlab confirms the start date in writing once the courier hand-off is logged.

Question 3

What sample types are accepted?

Accepted Answer

Accepted sample types are peripheral blood (EDTA), saliva (collection kit), purified genomic DNA, and amniotic fluid for prenatal trio analysis. Amniotic fluid must always be submitted alongside both parental samples. Geneticlab provides collection kits, labelling, and shipment logistics.

Question 4

How much blood, saliva, or DNA is needed?

Accepted Answer

Typical volumes are 2–4 mL EDTA peripheral blood per individual, one full saliva collection tube, or ≥3 µg high molecular weight genomic DNA at ≥50 ng/µL. For amniotic fluid trio cases, 10–20 mL is required. Geneticlab confirms exact quantities and labelling for paediatric and prenatal cases on request.

Question 5

Is a trio required, or can the proband be tested alone?

Accepted Answer

Both singleton (proband-only) and trio (proband plus both biological parents) workflows are supported. Trio analysis materially improves variant interpretation — especially for de novo variants and variants of uncertain significance — and is recommended for paediatric, prenatal, and complex phenotypes.

Question 6

When should I choose cWES over cWGS?

Accepted Answer

cWES targets the protein-coding regions of 22,000+ genes at ≥200X depth with ≥98.5% 20X coverage — a cost-efficient first-line test for most monogenic indications. Choose cWGS when structural variants, deep intronic variants, mitochondrial coverage, or undiagnosed cases after exome warrant whole-genome analysis.

Product Name	XOME™ Clinical Whole Exome Sequencing (cWES)
Gene numbers	Over 22,000 protein coding genes
Sequencing range	Whole exome
Sequencing depth	≥200X
20X coverage	≥98.5%
Sample type	Peripheral blood / Saliva / Genomic DNA / Amniotic fluid (Trio)
Turnaround time	26 working days
Delivery location	Hong Kong – Shenzhen

Clinical Whole Exome Sequencing for unbiased monogenic diagnosis.

When is cWES the right test?

Exome-wide variant catalogue, in a single test.

Variant types — official report

Variant types — supplementary report

Accurate, comprehensive, and cost-efficient.

Accurate

Comprehensive

Cost-efficient

Multiple sample types

Safe

From physician order to report.

Frequently asked questions

Get the right XOME pathway for your patient, family, or service line.