What is NIPT?
December 16, 2025
What is Exome?
December 16, 2025What is NIPT?
December 16, 2025What is Exome?
December 16, 2025
Whole Exome Sequencing
GenoXome is one of the most advanced methods used in the diagnosis of rare, inherited, and neurodegenerative diseases. Using Whole Exome Sequencing (WES) technology, it delivers exceptional gene coverage and high diagnostic accuracy in a single test.
GenoXome Whole Exome Sequencing Service
Comprehensive genomic evaluation for complex cases. GenoXome delivers high-resolution whole exome sequencing, providing strong diagnostic support across a wide spectrum including rare diseases, neurodevelopmental disorders, neuromuscular pathologies, and inherited cancer risks.
Multidimensional analysis in a single test. In addition to detecting SNVs, indels, and large-scale structural variants within exonic regions, GenoXome can simultaneously evaluate copy number variations (CNVs) and mitochondrial DNA (mtDNA) variants, elevating the test to an advanced level of analytical coverage.
Quality-assured workflow. All laboratory and analytical processes are conducted under ISO-based quality management systems and supported by a CE-IVD–compliant testing infrastructure with a fully validated bioinformatics pipeline.
Robust clinical database support. Diagnostic accuracy is enhanced through the use of an extensive database integrating scientific literature, clinical guidelines, population datasets, and phenotype–genotype correlations for variant interpretation.
Faster access to an accurate diagnosis.
With its strong technological infrastructure and expert clinical interpretation, GenoXome facilitates diagnosis in previously unexplained cases and supports informed guidance of treatment strategies.
Discover Your Genetic Code with Genoxome
Reach diagnostic insights through exon region analysis covering 85% of disease-associated genes.
An advanced genomic solution that comprehensively evaluates SNV, indel, CNV, and mtDNA variants in a single analysis.
*Includes high-quality sequencing data and comprehensive bioinformatics analysis.
Through technology transfer initiatives and international collaborations, Genoks performs numerous genetic tests at its Ankara-based central laboratory in accordance with international standards.
Genoxome Whole Exome Sequencing (WES) Key Features
Genoxome Whole Exome Sequencing (WES) analysis is a clinically focused, high-coverage solution that enables the simultaneous evaluation of thousands of genes in a single test.
Broad Exome Coverage
Evaluation is performed using a high-coverage exome panel that includes a large proportion of protein-coding regions, with a particular focus on clinically relevant genes.
Clinical Prioritization Algorithm
Variants within whole-exome data are prioritized based on phenotype information and current guidelines, highlighting the most clinically meaningful findings for your physician.
Experienced WES Team
Analyses are reviewed by an expert bioinformatics and clinical genetics team with extensive experience in whole exome sequencing and variant interpretation, focused on genetic disorders.
Fast and Reliable Reporting
Thanks to a standardized analysis pipeline, whole-exome data are analyzed promptly and translated into clear, actionable reports that support clinical decision-making.
Depth and Coverage Reliability
Mean read depth and coverage metrics are monitored at the gene and exon level to ensure clinically critical regions are sequenced with sufficient quality.
Trio and Family-Based Analysis
Mother–father–child (trio) or extended family analyses improve understanding of inheritance patterns and increase the likelihood of identifying de novo or recessive variants.
CNV and Additional Analyses
Using read-depth–based CNV analysis, not only single-nucleotide changes but also exon- or gene-level deletions/duplications can be assessed from exome data.
Continuously Updated Databases
Reference databases and literature sources used in Genoxome analysis are regularly updated, ensuring reports are prepared in line with the latest guidelines and evidence.
When Is It Recommended?
Whole Exome Sequencing (WES) is especially recommended in undiagnosed disease histories and in cases with unclear clinical findings, particularly for the following clinical presentations:
Neurodevelopmental Delay
Used to investigate the underlying genetic etiology in unexplained cases with delays in motor, language, or social developmental milestones.
Autism Spectrum Disorder
Helps clarify genetic causes in syndromic or non-syndromic autism cases characterized by social communication difficulties and repetitive behaviors.
Epilepsy
Enables screening of variants in epilepsy-associated genes in patients with early-onset, treatment-resistant, or unexplained seizure histories.
Immunodeficiency
In cases with frequent infections, severe infections, or a supportive family history, genetic findings consistent with primary immunodeficiency syndromes may be investigated.
Muscular Dystrophy and Neuromuscular Disorders
Used to identify inherited neuromuscular disorders underlying presentations such as muscle weakness, gait difficulty, or elevated creatine kinase.
Hearing Loss
Enables evaluation of genes associated with both syndromic and non-syndromic hearing loss in patients with congenital or early-onset sensorineural hearing loss.
Skeletal Dysplasia
Provides exome-level evaluation as an alternative to broad skeletal dysplasia panels in cases with short stature, bone deformities, or radiologic skeletal abnormalities.
Metabolic Disorders
Supports genetic diagnosis in suspected metabolic disease with unexplained biochemical findings, such as lactic acidosis, hypoglycemia, or hepatomegaly.
Cognitive Impairment
In cases with learning difficulties, significant decline in school performance, or intellectual disability, multiple genetic causes can be investigated simultaneously.
Arrhythmia and Cardiac Findings
In individuals with syncope, a history of sudden death, or unexplained arrhythmia findings, inherited cardiac channelopathy and cardiomyopathy genes are evaluated.
Ataxia and Movement Disorders
In patients with balance impairment, gait abnormalities, or involuntary movements, exome-level evaluation may be performed instead of broad movement-disorder gene panels.
When Is It Recommended?
In cases with an undiagnosed disease history or unclear clinical findings:
Who Should Consider Testing?
- Individuals with a disease history that cannot be diagnosed using standard clinical tests,
- Cases in which first-line genetic tests have failed to yield results,
- Situations with suspected genetically heterogeneous disorders involving multiple genes,
- Complex clinical presentations where similar findings may indicate several different diseases,
- Families with an affected child who are planning a new pregnancy,
- Families with a history of congenital anomalies,
- Individuals with a known family history of genetic disease.
How Is the EXOME Test Performed?
- Clinical evaluation: Medical history, clinical findings, and family background are reviewed.
- Pedigree construction: A family tree covering at least three generations is created.
- Information & consent: The process is explained and written informed consent is obtained.
- Sample collection: A blood sample is collected in an EDTA tube.
- DNA isolation: DNA is extracted from blood and quality control is performed.
- NGS sequencing: Exonic regions are sequenced at high resolution.
- Bioinformatic analysis: Variants are filtered, classified, and correlated with clinical data.
- Clinical reporting: Results are evaluated and reported by expert physicians.
- Genetic counseling: Findings are explained and recommendations for treatment or follow-up are provided.
