Clinical WGS

Research Services

Clinical Diagnosis

Service Support

The diagnosis of rare genetic disorders still presents a major challenge in the clinical setting. At this point, Whole Genome Sequencing (WGS) offers a comprehensive and rapid solution.

With the WGS method, the entire human DNA — not only protein-coding genes but also regulatory and non-coding regions — can be analyzed with high accuracy. This technology is particularly beneficial for early diagnosis and appropriate treatment guidance in undiagnosed complex cases and pediatric patients. Additionally, scanning the entire genome in a single test instead of conducting multiple individual tests offers significant time and cost advantages.

Genoks Lifescience manages this process in the most reliable and efficient way by utilizing high-precision sequencing technologies. Its quality standards and laboratory infrastructure ensure accurate detection of genetic variants. Every stage of the genetic analysis process is carried out by our expert teams, and the results are supported by clinically meaningful data.

At Genoks Lifescience, our goal is to accelerate genetic diagnostic processes and provide individuals with timely, accurate, and effective healthcare solutions.

Clinical WGS
Clinical TruSeq Exome RNA Sequencing

Sample Requirements

Sample Type	Quantity	Volume	Concentration	Description	Recommended Collection Tube
Genomic DNA	≥ 200 ng	—	≥ 10 ng/µl	• No degradation • No contamination • No discoloration • No viscosity • No extra bands	1.5 ml or 2 ml microcentrifuge tube
Whole Blood	—	≥ 2 ml	—	3–5 ml recommended	K2EDTA tube or ACD (yellow cap) Pediatric sample: EDTA (purple cap)
Buccal Swab	≥ 2 tüp	—	—	—	Mawi iSWAB DNA collection kit Isohelix RD-01 RapiDri pouch Isohelix SK-2S cheek swab
Saliva	—	≥ 2 ml	—	—	Oragene® OG-500 collection tube

Sequencing and Analysis

Service Type	Sequencing Platform	Read Strategy	Coverage Recommended	Standard Analysis
WGS	Illumina NovaSeq 6000	Paired-end 150 bp	➤ 30X for common variants ➤ 40X for rare variants	• Data quality control • Alignment to reference genome • Variant calling • Annotation

Formalin-fixed, paraffin-embedded (FFPE) tissue samples are an extremely valuable resource, particularly in the field of oncology, as they allow for retrospective analysis. However, due to fixation and storage processes, RNA molecules in these samples can be significantly degraded. This degradation reduces the reliability of gene expression analyses and leads to a need for deeper sequencing. To overcome these technical limitations, TruSeq Exome RNA sequencing technology has been developed. It enables the generation of robust and consistent gene expression profiles even from degraded RNA or RNA isolated from FFPE samples. Compared to standard mRNA sequencing methods, it requires less RNA input and can achieve sufficient results with lower sequencing depth, offering both time and cost efficiency. Genoks Lifescience integrates this advanced technology into clinical workflows to deliver high-quality transcriptome analyses from FFPE samples. The entire process is supported by rigorous quality control steps and standardized laboratory protocols. As a result, researchers are provided with powerful and reliable data, particularly in the fields of cancer biology and diagnostic genetics.