Frequently Asked Questions

NG-Panel (Next-Generation Sequencing) tests are targeted molecular diagnostic assays designed to analyze hundreds of genes associated with a specific organ system or disease group (e.g., Neurology, Ophthalmology, Metabolic) simultaneously in a single workflow. Compared to single-gene testing, they offer significant time and cost efficiency while providing base-pair resolution to detect point mutations and micro-deletions/duplications missed by conventional cytogenetic methods (like Karyotyping).

Yes. As soon as a patient's report is verified by our Medical Geneticists, an automated SMS notification is sent to the registered mobile number. For institutional clients, automated email alerts and portal dashboard notifications are instantly dispatched upon report release.

Institutional partners, private clinics, and ordering physicians access reports via the dedicated "Institutional Result Portal." By logging in with your assigned institutional credentials, you can track the real-time status of all submitted samples (e.g., Accessioning, Sequencing, Bioinformatics, Reporting) and download finalized clinical reports individually or in bulk.

Nucleus Genetics combines phenotype-optimized NGS target enrichment panels, HPO-integrated (Human Phenotype Ontology) bioinformatic pipelines, and rigorous medical curation conducted jointly by Clinical Geneticists and subspecialist clinicians (Neurologists, Ophthalmologists, Pediatric Metabolists) to translate complex genomic data into actionable clinical insights.

Pinpointing the precise pathogenic variant establishes the exact mode of inheritance. This enables accurate recurrence risk calculation and opens reproductive options such as PGT-M (Preimplantation Genetic Testing for Monogenic Disorders) during IVF to select unaffected embryos, or prenatal diagnostic procedures (CVS/Amniocentesis) in subsequent pregnancies.

In many cases, yes. Identifying the underlying genetic cause allows for precision medicine strategies: metabolic panels can guide early nutritional or enzyme replacement therapies (ERT), while neurology and ophthalmology panels can determine eligibility for FDA-approved gene therapies (e.g., Luxturna, SMA gene replacement) or targeted clinical management protocols to slow disease progression.

A VUS indicates that a genetic alteration was identified in a panel gene, but current global medical literature lacks sufficient evidence to definitively classify it as benign or disease-causing. In such scenarios, our clinical team may recommend parental testing (Trio analysis) or functional/phenotypic correlation to further clarify the variant's clinical relevance.

Yes, absolutely. Many inherited metabolic, neurological, or developmental disorders follow an autosomal recessive inheritance pattern, where both parents are asymptomatic carriers and the condition manifests only when the child inherits two mutated alleles. Additionally, de novo mutations—new genetic changes that arise spontaneously during gametogenesis or early embryogenesis—frequently occur without any family history.

Including high-depth sequencing, bioinformatic processing, and multidisciplinary medical curation, panel test results are typically completed within 2 to 4 weeks and issued as a comprehensive clinical report. You can access your test results through our website.

Most panel tests require a single tube of peripheral blood (EDTA purple-top tube) or, in specific cases, a saliva/buccal swab sample. Because NG-Panel testing directly evaluates DNA sequences, fasting, diet, or current medications do not affect the results; samples can be collected at any time of day.

Yes. Our secure portal maintains an archive of all past clinical reports and secondary analysis request logs. All data processing and storage infrastructure strictly comply with GDPR, HIPAA, and national health data protection regulations, ensuring end-to-end encryption and highest-level patient privacy.

Individual patients or authorized family members can access test results by clicking the "Online Results" button on our portal. You can securely log in using your registered ID/Passport Number along with a One-Time Password (OTP) sent to your registered mobile phone via SMS to view and download your verified PDF report.