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GEN-Xome
25,000 EGP
It’s not just Diagnosis, it’s hope! A family history of a rare disease is NOT the kind of history that must repeat itself.
With more than 7,000 identified rare disease and approximately 80% being linked to genetic causes, diagnosing rare diseases can be often take a long time – up to 7 years – with many financial & emotional burdens incurred. With GEN-XOME, this is not the case anymore!
You will receive your report via Our GEN-Reports Portal within 8 weeks.
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- Clinical counseling with Egypt’s only specialized rare diseases clinicians
- Biggest data pool of the Egyptian population
- Post-test family planning session with various treatment & prevention plan
- Results reviewed by American Board-Certified Geneticists
Complimentary 30-minute genetic consultation included
Description
The science and technology behind
- Targets >95% of the exome, covering a significant portion of disease-causing variants
- High depth of coverage (100-150x) ensures accurate variant detection and minimizes false-positives and false-negatives
- Bioinformatics analysis pipeline prioritizes variants based on population frequency, predicted pathogenicity, and clinical relevance
- Detects both known and novel disease-causing variants, making it suitable for diagnosing rare and genetically heterogeneous conditions
- Provides a cost-effective alternative to whole-genome sequencing while still capturing most clinically relevant variants
Turn Around Time (TAT): 8 weeks
Sample type: Blood sample
Availability: Branch visit (Complimentary genetic counseling)
Report: Online through GEN-Portal
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