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Whole Exome Sequencing — WES

Decode the genes
that shape your health

MedEx brings you hospital-grade Whole Exome Sequencing — analyzing 22,000 protein-coding genes to diagnose rare hereditary conditions, with results interpreted by specialist physicians and backed by internationally accredited laboratories.

CAP Accredited Lab
CLIA & ACAP Certified
MD-reviewed Reports
🔬 Search WES Gene Database
BRCA1Hereditary Breast/Ovarian CancerChr 17
GNAO1Developmental Epileptic EncephalopathyChr 16
CFTRCystic FibrosisChr 7
MYBPC3Hypertrophic CardiomyopathyChr 11
LDLRFamilial HypercholesterolaemiaChr 19
PKD1Polycystic Kidney DiseaseChr 16
FBN1Marfan SyndromeChr 15
22K
Genes Analyzed
100X
Mean Depth
CAP ACCREDITED LABORATORY
CAP Accredited College of American Pathologists
CLIA CERTIFIED
CLIA Certified Clinical Lab Improvement Amendments
ACAP ACCREDITED
ACAP Certified Asian Clinical Accreditation Program
ISO 15189 MED. LAB.
ISO 15189 Medical Laboratory Accreditation
CAP ACCREDITED LABORATORY
CAP Accredited College of American Pathologists
CLIA CERTIFIED
CLIA Certified Clinical Lab Improvement Amendments
ACAP ACCREDITED
ACAP Certified Asian Clinical Accreditation Program
ISO 15189 MED. LAB.
ISO 15189 Medical Laboratory Accreditation
Understanding the Test
What is Whole Exome
Sequencing?
Genome Coverage Comparison
Whole Genome (WGS) 100% of DNA
Full Genome Coverage
Whole Exome (WES) ← You are here ~2% of DNA · 85% of known variants
Protein-Coding Genes
Gene Panel <0.5%
Panel
💡 WES targets only ~2% of the genome, but this region contains ~85% of all known disease-causing mutations — making it the most efficient clinical sequencing choice for rare disease diagnosis.
WES Analyzes
22,000
Protein-coding genes
mtDNA
Mitochondrial DNA included
100X
Mean sequencing depth
34
Day turnaround (WES)
Decode the Genes

The protein-coding regions of your DNA — completely decoded

Whole Exome Sequencing analyzes the exons — all protein-coding regions of every human gene — plus mitochondrial DNA. These regions contain the instructions your body uses to build the ~20,000 proteins essential to life.

When mutations occur in these sequences, they can disrupt protein function and cause genetic disease. Because the exome harbors ~85% of all known disease-causing variants, WES is the most clinically impactful sequencing approach for rare disease diagnosis — achieving a 30–40% diagnostic rate.

🧬
All protein-coding genes analyzed simultaneously No need to guess which gene is affected — all 22,000 are screened in a single test
🔬
ACMG/AMP variant classification Every variant classified by international guidelines and reviewed by specialist MDs
📊
Raw data available for download FASTQ, BAM, VCF and annotation files provided on request for further analysis
👨‍👩‍👧
Solo, Duo, or Trio testing Test just the patient, or include family members to dramatically improve diagnostic yield
See Pricing & Packages
22K
Genes Screened
30–40%
Rare Disease Diagnosis Rate
7K+
Known Rare Diseases Covered
100X
Mean Read Depth
Transparent Pricing
Choose your test
All packages include physician-reviewed reports, genetic counseling consultation, and access to our accredited laboratory network. Speak with our team to find the right test for your situation.
🌐

Whole Genome

Ultimate Analysis · WGS / DGS
฿ 99,999
🧬 Entire genome (Exon + Intron + mtDNA)
  • Complete genome — coding & non-coding
  • Detects structural variants & repeat expansions
  • Gold standard when WES is inconclusive
  • Full mitochondrial DNA
  • Specialist MD interpretation included
  • All raw genomic data provided
  • Priority genetic counseling
⏱ Turnaround: 66 days
Book WGS Test
View Sample Report
💡
Not sure which test is right for you?
Our genetic medicine specialists will help select the most appropriate test based on your symptoms, medical history, and family background. Book a free consultation below.
Clinical Indications
Is WES right for you?
WES delivers the highest value when standard diagnostic tests have been inconclusive, or when symptoms span multiple organ systems without an obvious cause.
Decode the genes
01

Undiagnosed Rare Disease

You've been through multiple tests without a clear diagnosis, and suspect a hereditary or genetic cause for your symptoms.

02

Complex or Multi-System Symptoms

Your symptoms are broad, atypical, or affect multiple organ systems in a pattern that doesn't fit a single known condition.

03

Inconclusive Prior Testing

Previous gene panels, chromosomal analysis, or other genetic tests did not provide a definitive answer.

04

Child with Developmental Issues

Your child has developmental delay, intellectual disability, seizures, or multiple congenital anomalies that may have a genetic cause.

05

Suspected Mitochondrial Disease

You or your child have features suggesting mitochondrial dysfunction — multi-organ involvement, exercise intolerance, or lactic acidosis.

06

Family History of Hereditary Conditions

A close family member has been diagnosed with a hereditary condition and you want to understand your own genetic risk.

Simple Process
Your journey in
three steps
💉

Step 1 — Consult & Sample

After a consultation with your MedEx physician, a simple blood draw of 3 ml (EDTA tube) is collected at our clinic. No fasting or special preparation is required.

🔬

Step 2 — Sequencing & Analysis

Your sample undergoes next-generation sequencing at our CAP, CLIA, and ACAP accredited partner laboratory. All variants are classified per ACMG/AMP guidelines and reviewed by specialist physicians.

📋

Step 3 — Results & Counseling

A detailed clinical report is delivered within your package's turnaround time. Your MedEx doctor walks you through findings, and genetic counseling is included for all results.

Understanding Results
What your report means
All findings are interpreted against your clinical symptoms and family history by specialist physicians, using the internationally recognized ACMG/AMP 5-tier classification system.
Variant Classification Spectrum (ACMG/AMP Guidelines)
Benign
Likely Benign
VUS
Likely Pathogenic
Pathogenic
← Low pathogenic risk High pathogenic risk →

Positive

A pathogenic or likely pathogenic variant has been identified that is consistent with your clinical presentation. Your MedEx physician will guide next steps for management, treatment options, and family screening implications.

!

Inconclusive

A variant of uncertain significance (VUS) has been detected. Current evidence is insufficient to confirm it as disease-causing. As research accumulates, the variant may be reclassified. Re-analysis on new symptoms is available free of charge.

Negative

No disease-causing variant was identified in the analyzed regions. A negative result does not completely rule out a genetic disorder — some variants may fall outside the exome. Your doctor will discuss whether further testing is warranted.

Conditions Covered
Hereditary conditions
we can help diagnose
Hereditary Cardiovascular Disease
Hereditary Cancer Syndromes
Hereditary Neurological Disease
Hereditary Metabolic Disorders
Hereditary Kidney Disease
Mitochondrial Diseases
Connective Tissue Disorders
Skeletal Dysplasias
Primary Immunodeficiencies
Neuromuscular Diseases
Intellectual Disability
Congenital Anomalies
Epilepsy & Seizure Disorders
Hematological Disorders
Developmental Delay
Ophthalmological Conditions
Endocrine Disorders
Pulmonary Disease
Hearing Loss (Hereditary)
Skin Disorders (Genodermatoses)
Assay Specifications
Detailed Test Information
WES — Whole Exome Sequencing
WGS/DGS — Whole Genome Sequencing
Test Code
OT001
Target Genes
22,000 genes including mitochondrial DNA (mtDNA)
Target Enrichment
MGIEasy Exome Capture V5 (MGI)
Platform
DNBSEQ-G400 (MGI) — 2 × 100 bp paired-end reads
Mean Depth
100X
Reference Genome
GRCh37 / UCSC hg19
Bioinformatics
In-house pipeline; variants classified per ACMG/AMP guidelines (Richards et al., 2015). Pathogenic and likely pathogenic variants reported; VUS reported at discretion. Variants passing internal QC not validated by Sanger sequencing.
Testing Design
Solo · Duo · Trio (Solo: index patient only; Duo: index + one family member; Trio: index + two family members)
Specimen
EDTA whole blood — 3 ml
Turnaround
34 days from sample receipt
Raw Data
FASTQ, BAM, VCF and annotation files available on request
Accreditation
CAP · CLIA · ISO 15189
Test Code
OT002
Coverage
Whole genome — Exon + Intron + mtDNA (full human genome including non-coding regions)
Target Enrichment
PCR-free whole genome library preparation
Platform
DNBSEQ-T7 (MGI) — 2 × 150 bp paired-end reads
Mean Depth
30X (whole genome)
Reference Genome
GRCh37 / UCSC hg19
Bioinformatics
In-house pipeline; detects SNVs, indels, structural variants, CNVs, and repeat expansions. Variants classified per ACMG/AMP guidelines. Non-coding and regulatory region variants analyzed. Pathogenic and likely pathogenic variants reported.
Testing Design
Solo · Duo · Trio
Specimen
EDTA whole blood — 3 ml
Turnaround
66 days from sample receipt
Raw Data
CRAM, VCF, and annotation files available on request
Accreditation
CAP · CLIA · ISO 15189



Technical Details
Assay Specifications
Target Genes
22,000 protein-coding genes including mtDNA
Enrichment
MGIEasy Exome Capture V5 (MGI)
Platform
DNBSEQ-G400 / DNBSEQ-T7 (MGI) · 2×100 bp paired-end reads
Mean Depth
100X (typically 163X achieved in practice)
Reference
GRCh37 / UCSC hg19
Classification
ACMG/AMP guidelines (Richards et al., 2015)
Test Designs
Solo · Duo · Trio
Raw Data
FASTQ, BAM, VCF & annotation files on request
Specimen
EDTA whole blood — 3 ml
Accreditation
CAP · CLIA · ACAP · ISO 15189
Frequently Asked Questions
Your questions answered

What is the difference between DES, WES, and WGS?

DES (Diagnostic Exome Sequencing) covers 5,870 well-established disease genes — ideal when you want a targeted, cost-effective starting point. WES (Whole Exome Sequencing) covers all 22,000 protein-coding genes, offering the widest exome coverage. WGS (Whole Genome Sequencing) covers the entire genome including non-coding regions, and is recommended when WES is inconclusive or when structural variants / repeat expansions are suspected. Our team will help you choose the right tier at your consultation.

How long does it take to get results?

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Turnaround times from sample receipt: DES — 21 days, WES — 34 days, WGS/DGS — 66 days. Our team will notify you when your report is ready and schedule a results consultation with your physician.

What sample is needed and how is it collected?

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Only a standard blood draw of 3 ml in an EDTA tube is required. The collection is performed at MedEx clinic by our nursing team. No fasting or special preparation is needed. The sample is then shipped to our accredited laboratory partner.

Can family members be tested at the same time?

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Yes — WES and WGS offer Duo testing (you plus one parent or family member) and Trio testing (you plus both parents). Including family members dramatically improves the diagnostic yield, as it allows us to determine whether variants were inherited or occurred de novo (new). Your physician will advise on the most appropriate configuration for your situation.

Is mitochondrial DNA included?

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Yes. All three test options — DES, WES, and WGS — include full mitochondrial DNA analysis. This is particularly important for patients with suspected mitochondrial disease, which often presents with multi-organ involvement, exercise intolerance, or lactic acidosis.

What if my result comes back inconclusive (VUS)?

+
A Variant of Uncertain Significance (VUS) means a genetic change was found, but current evidence is not sufficient to confirm it causes disease. As new research accumulates, VUS variants are often reclassified as pathogenic or benign. If you develop new symptoms or new evidence emerges, you can request a re-analysis of your existing data free of charge — no repeat blood draw needed.

Can I get my raw sequencing data?

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Yes. FASTQ, BAM, VCF, and annotation files are all available upon request. These can be shared with other healthcare providers, used for independent bioinformatic analysis, or stored for future re-analysis as genomic knowledge advances.

What are the limitations of WES?

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WES does not cover non-coding (intronic) regions, so it may miss variants in regulatory sequences. It cannot reliably detect large chromosomal rearrangements, nucleotide repeat expansions, mosaicism below ~20%, or epigenetic changes. Some genes with repetitive sequences or high GC content may have suboptimal coverage. If WES is negative but suspicion remains high, WGS is the recommended next step.

Is genetic counseling included?

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Yes. All WES and WGS packages at MedEx include a results consultation with a physician experienced in genetic medicine. Formal genetic counseling sessions are available for all patients, especially those with positive or complex results, to help you understand inheritance patterns, family implications, and management options.

Is my genetic data kept private?

+
Absolutely. Your genetic data is treated as the most sensitive medical information and is protected by strict data privacy protocols. Data is stored in encrypted systems, and is only shared with your treating physician and the accredited laboratory. We never share identifiable genetic data with third parties, insurers, or employers without your explicit consent.

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