Frequently Asked Questions
What is Genoks, and in which areas does it provide genetic testing?
Genoks is a genetic diagnostic laboratory offering prenatal screening (NIPT), carrier screening, Whole Exome Sequencing (WES/GenoXome), Whole Genome Sequencing (WGS), hereditary/somatic oncogenetic panels, pharmacogenetics, and confirmatory tests (Sanger, MLPA, FISH). All processes are conducted in accordance with quality standards and the principles of ethics and data security.
How is it decided which genetic test is right for me?
The right test is determined together with your physician, a medical geneticist and/or genetic counselor, based on medical history, family history and clinical findings. NIPT/carrier screening may be preferred for prenatal planning, while WES/WGS or targeted panels may be chosen for diagnostic processes.
Which sample types are accepted? (Blood, saliva, tissue, etc.)
Depending on the test type, whole blood (EDTA), peripheral blood, saliva, tissue, FFPE blocks, amniotic fluid, CVS or other suitable biological samples are accepted. In prenatal testing the sample type varies by clinical indication. Genoks sample acceptance criteria should be reviewed prior to sample collection.
What is the general reporting time?
It depends on the test type. Prenatal and carrier screening tests are typically reported in a short time, while WES/WGS and oncogenetic panels take longer due to bioinformatics analysis. Support for prioritization is provided in case of clinical urgency.
How are my personal and genetic data protected?
Genoks operates in compliance with KVKK and relevant regulations under data minimization and access-authorization principles. Data is stored in encrypted systems; only sharing necessary for the clinical process is performed. Use of data for research requires separate consent.
How are result reports delivered, do they include clinical interpretation?
Reports are delivered with medical geneticist evaluation and clinical-context interpretation. Variants consistent with clinical findings are classified (pathogenic / likely pathogenic / VUS, etc.). Confirmatory tests and family studies are recommended where necessary.
What is the NIPT test and what is its purpose?
NIPT (Non-Invasive Prenatal Test) is based on the analysis of cell-free fetal DNA (cfDNA) in the mother's blood and screens for chromosomal conditions such as Down syndrome (Trisomy 21), Trisomy 18 and Trisomy 13. It is non-invasive and requires only a blood sample.
From which week of pregnancy can NIPT be performed?
It can generally be performed from the 10th week of pregnancy. Eligibility is evaluated by the physician considering gestational week, fetal fraction and clinical status.
Is NIPT an invasive procedure?
No. Only maternal blood is taken; no sample is collected from the uterus by needle. Therefore it does not carry the risks specific to invasive procedures such as miscarriage.
Which chromosomal conditions does NIPT evaluate?
Standard panels screen for Trisomy 21/18/13. Depending on panel coverage, sex chromosome aneuploidies, selected microdeletions and some additional anomalies may be evaluated. Panel selection should be made together with the physician.
How accurate is NIPT? Is it a diagnostic test?
NIPT is a high-performance screening test, definitive diagnostic test it is not. High-risk results must be confirmed with diagnostic tests (amniocentesis, CVS, etc.). A low-risk result does not replace clinical follow-up.
How long does it take to get NIPT results?
Reporting is fast, depending on sample acceptance and lab workload. Prioritization may be requested in urgent clinical situations.
In which situations might NIPT not yield a result?
Low fetal fraction, multiple pregnancy, high BMI, early gestational week or technical reasons may affect the result. In such cases re-sampling or an alternative approach may be recommended.
What is RapidNIPT?
RapidNIPT is Genoks's cfDNA-based non-invasive prenatal screening service. Results are evaluated by medical geneticists together with clinical information; diagnostic confirmation is recommended where necessary.
Can NIPT be performed in twin pregnancies?
Yes, it can be performed in twin pregnancies; however, panel coverage, sex chromosome analysis and interpretation may differ. It is evaluated with the physician according to the clinical information.
Is NIPT suitable in IVF, donor oocyte/sperm or surrogacy cases?
Yes, it is suitable in most cases; however, interpretation may vary based on biological origin. These special situations must be declared at the time of test request.
Does the mother's cancer history affect NIPT results?
Although rare, circulating DNA changes due to maternal malignancy may affect the screening result. In such cases results are interpreted carefully and the physician may request additional evaluation.
What is the Carrier Screening Test, and who is it recommended for?
It is a genetic screening that identifies carrier status for autosomal recessive and X-linked diseases. It is recommended for couples planning pregnancy, those with recurrent pregnancy loss or with family history.
Which diseases are screened?
Hundreds of genes can be screened depending on panel coverage, primarily SMA, Cystic Fibrosis, Fragile-X and DMD. Options at Genoks include Mini, Maxi and Maxi+SMA panels.
What does "carrier" mean — does it affect my health?
A carrier is an individual who carries a single-copy change in the relevant gene and is usually healthy. However, if the partner is also a carrier of the same disease, the risk in children increases. For this reason, evaluation as a couple is important.
What happens if both partners are carriers?
Depending on the disease type, prenatal diagnosis options, preimplantation genetic testing (PGT-M), or alternative reproductive options can be considered. Genetic counseling is recommended.
What is Exome (WES/GenoXome), and when is it preferred?
WES is the sequencing of protein-coding regions (exons). It is preferred for diagnostic purposes in cases of suspected hereditary disease of unknown cause, multi-system involvement, rare diseases and complex phenotypes.
What is Whole Genome Sequencing (WGS), and how does it differ from WES?
WGS evaluates the entire genome including coding and non-coding regions. Its coverage is broader and it may have advantages for structural variants and copy number changes. WES or WGS is chosen depending on the clinical question.
Is trio analysis (mother-father-child) necessary?
Trio analysis enhances interpretive power by revealing the inheritance pattern of variants and may increase the diagnostic yield. The physician may recommend trio analysis in suitable cases.
What is a VUS (variant of uncertain significance)?
These are variants whose disease association is not clear with current evidence. They may be reclassified over time as literature and databases are updated. Clinical decisions should not be made based on a VUS; family studies are conducted if needed.
Are secondary / incidental findings reported?
Within the consent form shared with the patient, pathogenic findings for the limited gene lists recommended by clinical guidelines may be reported. The choice belongs to the patient and is stated in the consent form.
Can I request raw data (FASTQ/BAM/VCF)?
Yes, it can be requested within the framework of data security and ethical rules. Transfer is done via encrypted connection or physical media. Pricing and retention periods are included in the policy document.
Can data be re-analyzed?
Re-analysis can be requested when there are clinical phenotype updates, new literature or technical advances. The re-analysis protocol and information on time/fees is shared at the time of request.
What is the purpose of hereditary cancer panels?
They aim to identify hereditary risk including BRCA1/2 and other predisposition genes. Results can guide decisions such as screening frequency, prophylaxis and family screening.
Which treatment decisions do tumor panels (NGS) support?
Driver mutations identified in the tumor can support targeted therapy or immunotherapy options. The report is presented with clinical guidelines and literature references.
What is liquid biopsy, and when is it meaningful?
It identifies mutations by analyzing circulating tumor DNA (ctDNA) in the blood. It may be useful for monitoring treatment response, evaluating minimal residual disease or in cases where tissue access is difficult.
What are pharmacogenetic tests used for?
By evaluating gene variants that affect drug metabolism, they help personalize dose adjustment and drug selection. Results are interpreted in line with clinical guidelines.
How should I prepare before giving a sample?
If fasting or medication cessation is not required for the specific test type, no special preparation is needed. For prenatal tests, gestational week and prior transfusion/bone marrow transplant must be disclosed.
How do I send the sample? What are the transport conditions?
Genoks sample acceptance and transport instructions include temperature/packaging rules according to the test type. The support team provides guidance for cargo/courier planning.
What happens if my sample is insufficient/unsuitable?
If technical suitability cannot be achieved, a re-sample will be requested. In prenatal processes, gestational week and fetal fraction are taken into account.
What do negative / positive results mean?
For screening tests there may be outputs such as "low risk / high risk", and for diagnostic tests "pathogenic / likely pathogenic / negative". Clinical evaluation is always necessary; risk or diagnostic results are addressed together with the physician.
Can there be false positives / false negatives?
Yes — every test has its sensitivity / specificity and technical limitations. Confirmation for screening tests and appropriate methodological support for diagnostic tests (Sanger, MLPA, karyotype, etc.) are part of the process.
Do you provide genetic counseling?
Yes. Genetic counseling is provided for pre-test / consent, post-result interpretation, family screening, reproductive options and psychosocial support.
What are the sequencing depth and coverage rates?
Targeted coverage and average depth metrics vary by panel/WES/WGS. Reports indicate coverage status in critical regions and variant calling criteria.
Are copy number changes (CNV) and structural variants (SV) detected?
CNV/SV analysis is applied in many panels and WES/WGS workflows; however, detection power varies by size and genomic context. The methodology suited to the clinical question is chosen.
What are the technical limitations of genetic testing?
Variants with low mosaicism, repetitive sequences, GC-rich regions, pseudogenes, very large deletions/duplications, or balanced rearrangements may be captured with limited sensitivity in certain methodologies. Appropriate complementary tests are recommended.
How does the consent process work?
The purpose, scope, limitations, possible secondary findings, data-sharing and retention policies of the test are explained; processing begins after consent is obtained. Parental/guardian consent is required for applications under 18 years of age.
How long is my data retained, can I delete it?
Retention periods are determined by legal regulations and laboratory policies. Requests for deletion / anonymization are evaluated within the limits of the regulations.
How does pricing and reimbursement (private insurance) work?
Test fees and insurance coverage vary by test type, policy and agreements. Please contact the Genoks information line for up-to-date information and a quotation.
What are the billing and payment methods?
Credit card / bank transfer and corporate billing options are offered. Bulk application and reporting processes are supported under corporate agreements.
Are test request and LIMS integration available for institutions?
Yes. LIMS and secure portal access are provided for corporate panels, bulk sample management and result tracking. Data security and authorization rules apply.
What are the report formats (PDF/HL7/VCF) and integration options?
A PDF clinical report is standard. When needed, VCF/BAM and HL7/FHIR-like outputs can be provided as part of corporate integration.
Does recent blood transfusion / bone marrow transplant affect testing?
The analysis of some tests can be affected. It must be disclosed prior to application; appropriate methodology and timing are planned with the physician.
In case of consanguineous marriage, which tests are prioritized?
Carrier screening and, if needed, trio WES/WGS for comprehensive evaluation of rare, recessive diseases can be recommended. A targeted panel may also be chosen based on clinical phenotype.
Should I have microdeletion screening with NIPT?
Selected microdeletions are offered in some panels; however, clinical utility and performance metrics vary. It should be evaluated by the physician together with pregnancy history and ultrasound findings.
Can sex chromosome assessment be performed in twin pregnancies?
Depending on the panel and technology, this may be limited or not recommended. Clinical suitability is decided by the physician.
How do I book an appointment and how do I apply?
Applications can be made through the Genoks call center or the web form. Test selection and sample planning are carried out under physician guidance.
How is feedback regarding reports and processes communicated?
Feedback to be sent to the quality management unit is important for process improvement. Notifications are transparently recorded and responded to.