Genomic Testing | Whole Exome Sequencing & Gene Panels | Cytogenomix® Malaysia
Comprehensive Genomic Analysis

Genomic Testing

Whole Exome Sequencing with integrated mitochondrial analysis, CNV detection, and ROH analysis. Over 250 targeted gene panels for inherited disorders.

26+ GENE PANELS
20,000 GENES IN WES
99.5% ACCURACY
4-6 WEEKS TAT

Advanced Genomic Solutions

Our genomic testing services provide comprehensive genetic analysis through two complementary approaches: Whole Exome Sequencing (WES) for broad discovery and targeted gene panels for focused investigation of specific conditions.

  • Whole Exome Sequencing (WES): Comprehensive analysis of all ~20,000 protein-coding genes with integrated mitochondrial genome analysis, CNV detection, and Runs of Homozygosity (ROH) analysis.
  • Targeted Gene Panels: Over 250 disease-specific panels for efficient, cost-effective testing of clinically relevant genes.

Whether investigating undiagnosed rare diseases or screening for specific inherited conditions, our genomic testing options provide the depth and flexibility needed for accurate diagnosis.

Genomic Analysis

Genomic Testing Options

Choose the approach that matches your clinical needs

Whole Exome Sequencing

WES + mtDNA + CNV + ROH

Mitochondrial DNA CNV Analysis ROH Analysis
  • Analyzes all ~20,000 protein-coding genes
  • Complete mitochondrial genome sequencing
  • Copy Number Variant (CNV) detection
  • Runs of Homozygosity (ROH) analysis for consanguinity
  • 4-6 week turnaround time
  • Trio analysis available (proband + parents)

Targeted Gene Panels

250+ Disease-Specific Panels

  • Over 250 clinically curated gene panels
  • Neurology, cardiology, oncology, and more
  • Faster turnaround (2-3 weeks)
  • Higher depth of coverage
  • Simplified interpretation
  • Cost-effective for specific indications

Whole Exome Sequencing Features

Comprehensive analysis beyond standard exome sequencing

Mitochondrial Analysis

Complete sequencing of mitochondrial genome for detection of mtDNA variants associated with mitochondrial disorders.

CNV Detection

Bioinformatic detection of copy number variants from exome data, identifying large deletions and duplications.

ROH Analysis

Runs of Homozygosity analysis to detect consanguinity and identify regions of autozygosity associated with recessive disorders.

Trio Analysis

Analysis of proband plus both parents for efficient de novo mutation detection and compound heterozygote confirmation.

Variant Prioritization

Advanced filtering based on phenotype, inheritance pattern, and population frequency.

Clinical Reporting

ACMG/AMP guidelines-based interpretation with clear clinical recommendations.

Targeted Gene Panels

Over 250 clinically focused panels for efficient testing

250+
Total Panels
50+
Neurology
40+
Cardiology
30+
Oncology
Neurogenetics
Cardiovascular
Hereditary Cancer
Ophthalmology
Hearing Loss
Epilepsy
Neuromuscular
Metabolic
Renal
Respiratory
Skeletal Dysplasia
Dermatology

Featured Genomic Tests

Commonly ordered genomic analyses and gene panels

PNL055

Ciliopathies: Primary Ciliary Dyskinesia (39 Genes); Joubert Synd (46 Genes); Bardet-Biedl Syndrome Panel (32 genes)/SeniorLoken Synd (13 genes)

3 ml peripheral blood in EDTA (purple/pink top) tube
Details
PNL061

Congenital adrenal hyperplasia (Panel)

3 weeks 3 ml peripheral blood in EDTA (purple/pink top) tube
Genes: 7 genes analyzed
Details
CP 1-10

Custom Gene Sequencing Panel (1-10)

3 - 4 weeks Blood in EDTA, Bone marrow in Na Heparin tube - courier at ambient, Chorionic Villus Sampling
Details
PGX002

CYP2C19 Genotyping (Clopidogrel Metabolism)

Peripheral blood in EDTA
Details
PGX003

CYP2C9 Genotyping

Peripheral blood in EDTA
Details
PGX004

DPYD Genotyping

Peripheral blood in EDTA
Details
PNL102

Erythrocytosis NGS Gene panel (10 Genes)

3 weeks 3 ml peripheral blood in EDTA (purple/pink top) tube
Genes: 10 genes analyzed
Details
PNL105

Familial dyskinesia/chorea panel (5 Genes)

3 weeks 3 ml peripheral blood in EDTA (purple/pink top) tube
Details
View All Genomic Tests

When to Consider Genomic Testing

Clinical indications for WES and gene panels

Undiagnosed Rare Diseases

Patients with suspected genetic conditions who have not received a diagnosis through targeted testing.

Neurological Disorders

Intellectual disability, developmental delay, epilepsy, autism spectrum disorders.

Multiple Congenital Anomalies

Individuals with two or more major structural abnormalities.

Mitochondrial Disorders

Suspected mitochondrial disease with muscle weakness, encephalopathy, or multi-system involvement.

Consanguineous Families

ROH analysis can identify regions of autozygosity and guide variant prioritization.

Prenatal Anomalies

Fetal structural abnormalities detected on ultrasound with normal karyotype/microarray.

Frequently Asked Questions

Common questions about genomic testing

What is the difference between WES and gene panels?

WES analyzes all ~20,000 protein-coding genes and is ideal for undiagnosed conditions. Gene panels focus on genes associated with specific disorders, providing higher coverage and faster turnaround for targeted indications.

Does your WES include mitochondrial DNA?

Yes, our Whole Exome Sequencing includes complete mitochondrial genome analysis, CNV detection, and Runs of Homozygosity (ROH) analysis as standard components of the test.

How long does it take to get results?

Gene panels typically take 2-3 weeks. Whole Exome Sequencing takes 4-6 weeks from sample receipt. Rush options may be available for urgent cases.

What is the diagnostic yield of WES?

WES has a diagnostic yield of 25-30% for undiagnosed genetic conditions, making it one of the most effective tests for rare diseases.

What sample is required?

3-5 mL whole blood in EDTA tube (purple top). For trio analysis, samples from both parents and the affected individual are needed. Saliva kits are also available.

Will I receive genetic counseling?

Yes, pre- and post-test genetic counseling is provided by our board-certified genetic counselors to discuss implications and recommendations.

Ready to Order Genomic Testing?

Our genetic counselors and genomic specialists are ready to help you select the appropriate test and interpret results.

Schedule a Consultation Browse Genomic Tests

Or call us: +603-1234-5678