Frequently Asked Questions
What is Genoks, and in which areas does it provide genetic testing services?
Genoks is a genetic diagnostic laboratory that offers prenatal screening (NIPT), carrier screening, Whole Exome Sequencing (WES/GenoXome), Whole Genome Sequencing (WGS), hereditary/acquired oncogenetic panels, pharmacogenetics, and confirmation tests (Sanger, MLPA, FISH). All processes are carried out in accordance with quality standards, ethical principles, and data security policies.
How do I decide which genetic test is right for me?
The appropriate test is determined based on medical history, family history, and clinical findings, in consultation with your physician, a medical genetics specialist, and/or a genetic counselor. NIPT/carrier screening may be preferred in prenatal planning; WES/WGS or targeted panels may be preferred in diagnostic processes.
What types of samples are accepted? (Blood, saliva, tissue, etc.)
Depending on the test type, whole blood (EDTA), peripheral blood, saliva, tissue, FFPE block, amniotic fluid, CVS, or other appropriate biological samples are accepted. In prenatal tests, the sample type varies according to the clinical indication. Genoks sample acceptance conditions should be reviewed before sampling.
What is the general reporting time?
It depends on the type of test. Prenatal screening and carrier screening tests are typically reported in a short time, while WES/WGS and oncogenetic panels are reported in a longer time depending on the need for bioinformatics analysis. Support is provided for prioritization in cases of clinical urgency.
How are my personal and genetic data protected?
Genoks operates in accordance with KVKK (Personal Data Protection Law) and related regulations, with data minimization and access authorization principles. Data is stored in encrypted systems; only necessary sharing is done for the clinical process. Data usage for research purposes requires separate consent.
How are the result reports presented, do they include clinical interpretation?
Reports are presented with medical genetics specialist evaluation and interpretation in a clinical context. Variants compatible with clinical findings are classified (pathological/likely pathological/VUS, etc.). Verification tests and family studies are recommended when necessary.
What is NIPT and what is its purpose?
NIPT (Non-invasive Prenatal Test) is based on the analysis of cell-free fetal DNA (cfDNA) in maternal blood and provides screening for chromosomal conditions such as Down syndrome (Trisomy 21), Trisomy 18, and Trisomy 13. It is non-invasive; it only requires a blood sample.
From which week of pregnancy can the NIPT test be applied?
It can usually be applied from the 10th week of pregnancy. Suitability is evaluated by the physician, considering gestational week, fetal fraction, and clinical condition.
Is NIPT an invasive procedure?
No. Only maternal blood is taken; no sample is taken from inside the uterus with a needle. Therefore, it does not carry the risks specific to invasive procedures such as the risk of miscarriage.
Which chromosomal conditions does the NIPT test evaluate?
Basic panels offer Trisomy 21/18/13 screening. Depending on the scope of the panel, sex chromosome differences, selected microdeletions, and some additional anomalies can be evaluated. Panel selection should be made with the physician.
How accurate is the NIPT test, is it a diagnostic test?
NIPT is a high-performance screening test, not a definitive diagnostic test. A high-risk result should be confirmed with diagnostic tests (amniocentesis, CVS, etc.). A low-risk result does not replace clinical follow-up.
How long does it take for the NIPT result to be available?
Reporting is fast depending on sample acceptance and laboratory workload. Prioritization can be requested in clinically urgent situations.
In which situations may the NIPT result not be obtained?
Low fetal fraction, multiple pregnancy, high BMI, early gestational week, or technical reasons may affect the result. In such a case, re-sampling or an alternative approach may be recommended.
What is RapidNIPT?
RapidNIPT is Genoks' cfDNA-based non-invasive prenatal screening service. The results are evaluated together with clinical information by medical genetics specialists; diagnostic verification is recommended when necessary.
Can NIPT be performed in twin pregnancies?
Yes, it can be applied in twin pregnancies; however, panel scope, sex chromosome analysis, and interpretation may differ. It is evaluated with the physician according to clinical information.
Is NIPT suitable in cases of IVF, donor oocyte/sperm, or surrogate motherhood?
Yes, it is suitable in most cases; however, interpretation may change depending on the biological origin. These special cases must be declared during the test application.
Does the mother's cancer history affect the NIPT result?
Rarely, DNA changes in circulation due to maternal malignancy may affect the screening result. In such cases, the results are interpreted carefully, and the physician may request additional evaluation.
What is Carrier Screening Test, who is it recommended for?
It is a genetic screening that determines the carrier status for autosomal recessive and X-linked diseases. It is recommended for couples planning pregnancy, those with recurrent losses, or those with a family history.
Which diseases are screened?
Hundreds of genes can be screened according to the panel scope, especially SMA, Cystic Fibrosis, Fragile-X, DMD. Genoks offers options such as Mini/Maxi/Maxi+SMA.
What does “Carrier” mean, does it affect my health?
A carrier is an individual carrying a single copy change in the relevant gene and is mostly healthy. However, if the spouse is also a carrier for the same disease, the risk increases in children. Therefore, couple evaluation is important.
What happens if both spouses are found to be carriers?
Depending on the type of disease, prenatal diagnosis options, preimplantation genetic diagnosis (PGT-M), or alternative reproduction options can be evaluated. Genetic counseling is recommended.
What is Exome (WES/GenoXome), when is it preferred?
WES is the sequencing of protein-coding regions (exons). It is preferred for diagnostic purposes in cases of suspected inherited disease of unknown cause, multiple system involvement, rare diseases, and complex phenotypes.
What is Whole Genome Sequencing (WGS), what is the difference from WES?
WGS evaluates the entire genome, including coding and non-coding regions. Its scope is wider; it can provide advantages for structural variants and copy number changes. WES or WGS is selected according to the clinical question.
Is trio analysis (mother-father-child) necessary?
Trio analysis increases the power of interpretation and can increase the diagnostic rate as it shows the inheritance pattern of the variant. The physician may recommend the trio in appropriate cases.
What is VUS (variant of uncertain significance)?
These are variants whose disease relationship is not clear with current evidence. They can be reclassified over time as literature and databases are updated. Clinical decisions should not be based on VUS; family study is performed if necessary.
Are secondary/incidental findings reported?
Within the scope of the consent form shared with the patient, pathogenic findings for limited gene lists recommended in clinical guidelines can be reported. The choice belongs to the patient and is stated in the consent.
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 storage periods are included in the policy document.
Is data re-analysis performed?
Re-analysis can be requested when there is a clinical phenotype update, new literature, or technical developments. The re-analysis protocol and time/fee information are shared during the application.
What is the purpose of hereditary cancer panels?
It aims to determine the hereditary risk, including BRCA1/2 and other predisposition genes. The result can guide decisions such as screening frequency, prophylaxis, and family screening.
Which treatment decisions do tumor panels (NGS) contribute to?
Driver mutations detected in the tumor may support targeted or immunotherapy options. The report is presented with clinical guidelines and literature references.
What is liquid biopsy, in which cases is it meaningful?
It detects mutations by analyzing circulating tumor DNA (ctDNA) in the blood. It can be useful in monitoring treatment response, evaluating minimal residual disease, or in cases where tissue access is difficult.
What are pharmacogenetic tests for?
It helps to personalize dose adjustment and drug selection by evaluating gene variants that affect drug metabolism. The results are interpreted with clinical guidelines.
How should I prepare before giving a sample?
No special preparation is required unless fasting/drug discontinuation is required specific to the test type. In prenatal tests, conditions such as gestational week and previous transfusion/bone marrow transplantation must be reported.
How do I send the sample, what are the transportation conditions?
Genoks sample acceptance and transportation 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/inappropriate?
If technical suitability cannot be achieved, a repeat sample is requested. Gestational week and fetal fraction are taken into account in prenatal processes.
What does a negative/positive result mean?
There may be outputs such as “low risk/high risk” in screening tests and “pathological/likely pathological/negative” in diagnostic tests. Clinical evaluation is always necessary; risk or diagnostic results are discussed with the physician.
Can there be false positives/false negatives?
Yes, every test has sensitivity/specificity and technical limitations. Verification for screening tests and appropriate methodological support (Sanger, MLPA, karyotype, etc.) for diagnostic tests are included in the process.
Do you provide genetic counseling?
Yes. Genetic counseling is offered on 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 according to Panel/WES/WGS. Reports state the coverage status in critical regions and variant calling criteria.
Are copy number variations (CNV) and structural variants (SV) detected?
CNV/SV analysis is applied in many panel and WES/WGS workflows; however, detection power varies according to size and genomic context. Methodology suitable for the clinical question is selected.
What are the technical limitations of genetic tests?
Variants with low mosaicism level, repetitive sequences, GC-rich regions, pseudogenes, very large deletions/duplications, or imbalance disorders may be limitedly captured in certain methodologies. Appropriate complementary tests are recommended.
How does the consent process work?
The purpose, scope, limitations, possible secondary findings, data sharing, and storage policies of the test are informed; the process starts after consent is obtained. Parental/guardian consent is required for applications under the age of 18.
How long is my data stored, can I delete it?
Storage periods are determined according to legal regulations and laboratory policies. Deletion/anonymization requests are evaluated within the limits of legislation.
How does pricing and reimbursement (private insurance) work?
Test fees and insurance coverage vary according to test type, policy, and agreements. Please contact the Genoks consultation line for up-to-date information and offers.
What are the billing and payment methods?
Credit card/wire transfer and corporate billing options are offered. Bulk application and reporting processes are supported in corporate agreements.
Is test application 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 are applied.
What are the report format (PDF/HL7/VCF) and integration options?
The PDF clinical report is standard. If needed, VCF/BAM and HL7/FHIR-like outputs can be provided within the scope of corporate integration.
Will the test be affected if I have recently had a blood transfusion/bone marrow transplant?
The analysis of some tests may be affected. It must be declared before application; appropriate methodology and timing are planned with the physician.
Which tests are prioritized in the case of consanguineous marriage?
Comprehensive evaluation for rare, recessive diseases can be recommended with carrier screening and, if necessary, trio WES/WGS. A targeted panel can also be selected according to the clinical phenotype.
Should I have microdeletion screening in NIPT?
Selected microdeletions are offered in some panels; however, clinical benefit and performance metrics are variable. It should be evaluated by the physician together with pregnancy history and ultrasound findings.
Can sex chromosome evaluation be performed in twin pregnancy?
It can be done limitedly or may not be recommended depending on the panel and technology. Clinical suitability is decided by the physician.
How do I make an appointment and how do I apply?
Applications can be made via the Genoks call center or web form. Test selection and sample planning are carried out with physician guidance.
How is feedback on reports and processes communicated?
Feedback to be submitted to the quality management unit is important for process improvement. Notifications are recorded and answered transparently.