Rare Disease Diagnostics

home

Rare Disease Diagnostics

Steps in Clinical Genomic Analysis

Clinical Assessment
Description of Symptoms: Begin with a thorough clinical assessment of the patient. Document detailed information about the symptoms, medical history, family history, and any relevant clinical observations.
Selection of Sequencing Method
Decide on the most suitable sequencing method based on the clinical question, the suspected genetic basis of the disease, and available resources. Options include whole-genome sequencing (WGS) or whole-exome sequencing (WES), among others.
Data Generation and Preprocessing
Stay ahead of disruption & exceed customer expectations by implementing predictive analytics solutions.
Variant Calling and Annotation
Identify genetic variations (mutations) in the patient's DNA by comparing it to a reference genome. This involves detecting single nucleotide variations (SNVs), insertions, deletions, and other structural variations.
Variant Prioritization and Filtering
Prioritize variants based on their association with known disease genes or pathways. Tools and databases that curate disease-related genetic information can assist in this step.
Clinical Interpretation and Reporting
Compile a comprehensive report summarizing the genetic findings, their potential implications for the patient's health, and recommendations for further clinical management or confirmatory testing.
works

WORK PROCESS

How genix.ai process & works.

works

Clinical Assessment & History Review

Comprehensive evaluation of patient symptoms, family history, and clinical records to identify potential rare disease indicators.

Genetic & Molecular Testing

Perform targeted gene panels, exome or genome sequencing, and molecular assays to detect pathogenic variants or abnormalities.

Bioinformatics Analysis & Interpretation

Advanced computational tools are used to analyze genetic data, interpret variants, and correlate findings with clinical evidence.

Expert Report & Patient Counseling

Deliver a detailed diagnostic report with actionable insights, followed by genetic counseling for patients and families.

Ready to unlock the power of your DNA?

Your health story starts with a single saliva sample.

Order Your Kit Today View Sample Report

Frequently Ask Questions

1. What is included in the Genix DNA Report?
The Genix DNA Report offers a comprehensive view of your genetic makeup, covering key aspects of your health and wellness. It includes insights into your general well-being (like immunity and metabolism), athletic performance traits, genomic-based nutrition recommendations, skin health, and allergy predispositions. Additionally, it assesses your genetic risk for common cancers, identifies rare or hereditary disorders, and provides valuable data for reproductive and family planning decisions. All sections are presented in a user-friendly format with actionable recommendations.
2. How do I provide my DNA sample?
You will receive a saliva collection kit. Just follow the instructions and send it back to our lab.
  • Avoid eating, drinking, smoking, or chewing gum for 30–45 minutes before collection.
  • Spit into the provided funnel until it reaches the marked level.
  • Secure the sample with the stabilizing cap and return it using the prepaid return envelope. No blood, needles, or complicated tools are involved — just a quick, painless saliva sample.
3. Is the saliva collection process safe and easy?
Yes, the entire process is designed to be safe, hygienic, and hassle-free. The saliva kit meets international collection standards and includes clear, step-by-step instructions. Anyone can complete the collection independently at home in just a few minutes, making it accessible for both adults and children (above 2 years, with supervision).
4.How long does it take to get my report?
From the moment your sample reaches our certified lab, it typically takes 10 to 14 business days for processing, sequencing, and report generation. You will be notified via email and app notifications once your personalized report is ready to view.
5. How accurate is the analysis?
We use next-generation sequencing (NGS) and AI-powered genomic interpretation pipelines that are validated against international benchmarks. Our bioinformatics platform delivers insights with over 99.9% accuracy. Additionally, our content is curated and reviewed by certified clinical geneticists to ensure scientific and medical validity.
6. Is my genetic data safe and private?
Absolutely. At Genix.ai, privacy is our highest priority. Your genetic data is:
  • Encrypted at every stage (storage, transfer, and access)
  • Stored in HIPAA-compliant, secure cloud environments
  • You can also request complete deletion of your data at any time from within your Genix app.
7. Can I understand the report without a science background?
Yes, the report is written in simple, easy-to-understand language and includes intuitive visuals like charts and color-coded risk levels. Each section offers clear summaries, followed by optional detailed breakdowns for those who want to dive deeper. For further support, we offer in-app consultations with a certified genetic counselor to walk you through your results.
8. Will I receive diet or fitness recommendations?
Yes. Your DNA influences how your body metabolizes nutrients, builds muscle, responds to different diets, and recovers from exercise. Based on your genetic profile, you’ll receive personalized nutrition tips, recommended macronutrient balance, supplement advice, and fitness plans suited to your body type (endurance vs. power training potential, recovery time, etc.).
9. Can this test predict cancer or rare diseases?
The Genix DNA report does not diagnose diseases but instead evaluates your genetic predisposition to certain conditions based on known biomarkers and clinical evidence. For example, we assess your risk for BRCA-related breast and ovarian cancer, Lynch syndrome, or mitochondrial disorders. These insights empower you to seek preventive screening or lifestyle changes and discuss proactive care with a healthcare provider.
10. Is this test suitable for children?
Yes, children aged 2 years and older can take the test. Early access to genetic insights can help parents make informed decisions about nutrition, physical development, allergy management, and even emotional well-being. However, we recommend discussing sensitive results (e.g., disease risk) with a healthcare professional to ensure appropriate interpretation and action.
Genix.ai Logo

Genix.ai is an AI-powered clinical platform using NGS and imaging to detect biomarkers early, enabling clinicians to deliver cost-effective, personalized treatments for rare pediatric conditions, cancer care, and infectious diseases.

©2025 Radiome Health Private Limited.

In Association with Chadura.