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Rare Diseases
GEN-XOME A family history of a rare disease is NOT the kind of history that must repeat itself.
Fill out the booking form
Take our test
Discuss Options
Fill out the booking form
Take our test
Discuss Options
WHY GEN-XOME?
- Clinical counseling with Egypt’s only specialized genetic rare diseases clinicians
- World’s latest sequencing technology in testing for rare diseases
- Biggest data-pool of the Egyptian population
- Results reviewed by American board certified geneticists
- Post-test family planning session with various treatment & prevention plan
The SCIENCE behind it
with new technologies in DNA sequencing it is now feasible to perform genome-wide sequencing on a routine basis.
In whole exome sequencing the DNA responsible for encoding proteins is
sequenced. The exome, regions responsible for encoding proteins, consists of only 1-2% of a person’s total genome but harbors about 85% of the causal variants identified in Mendelian disorders. This method allows for detection of variants in the coding regions of any gene and not just specific variants or specific genes.
When is WES recommended?
We recommend WES for complex & undiagnosed cases with suspicion of genetic causes. This is especially true for neurodevelopmental disorders, including intellectual disability, global developmental delay, and autism spectrum disorder due to the high diagnostic yield.10, 13 The ACMG (American College of Medical Genetics and Genomics) recommends the use of exome/genome sequencing as FIRST-TIER TEST for children with intellectual disability, developmental delay, or multiple congenital anomalies.14 The test results from WES may also lead to more rapid diagnoses, improved prevention of symptomatic illness, more targeted treatments or even end the need for some costly or invasive procedures.
WES is conventionally recommended when patients present complex, heterogeneous phenotypes that are suggestive of multiple conditions or are otherwise unclear or atypical.
WES may also be recommended when a prior genetic test was unsuccessful. The latest clinical evidence also supports WES as a FIRST-LINE TEST when a patient’s symptoms or family history suggests genetic cause of the diseases.
Best service & doctors ever. After getting my GEN-NIPT results I felt so relieved and stress free to know that my baby is in great health while I'm only 12 weeks pregnant. I'm super satisfied that I did the test in my 3 pregnancies and I'd definitely recommend it to all pregnant women.
My GEN-NIPT experience was nothing short of exceptional and is highly recommended. The team at Generations Genetics demonstrated a remarkable level of care and attention throughout the entire process. I felt comfortable and informed. After receiving the results, it was reassuring to be able to trust the accuracy of the results allowing me to focus on the joy of my pregnancy without unnecessary worry.
I did the GEN-LIFE test with Generations Genetics and the results were super interesting! The process was super simple. I ordered a home test kit, followed very clear instructions and voila! it was ready. I then received a link that gave me an insight into every important aspect of my life. From knowing my countries of origins, to what foods cause my anxiety, I found information that explained why certain sports are better for me and which creams I needed to use for my skin. Gen-life report was very detailed yet easy to read. There is also a free consultation offered with it. The test was incredible and the process with GG was very professional & user friendly.
1. Are genetic counseling services available to all patients undergoing testing?
Yes, at Generations Genetics we provide a free counselling session for every patient undergoing a test.
2. How accurate are DNA results?
DNA results accuracy vary but are mostly more than 98% accurate.
3. Who can benefit from our services?
Pregnant Women: for screening to ensure that the baby is genetically healthy
Women whose ultrasound or prenatal testing results suggest an increased risk of birth defects.
Women who are pregnant or are planning to be after the age of 30 years.
Women who suffer from multiple miscarriages, or stillbirth.
Couples who seek a healthy family.
Couples who share common relatives.
Couples who are aiming for IVF
Individuals or couples who have had a history of infertility, or have experienced an early infant death in their families
Individuals who seek a healthy lifestyle and aim for a better future
Anyone concerned about birth defects or the inheritance of ethnic or familial conditions
4. Who will work on and review my results?
Generations Genetics is the only certified genetics institution in Egypt with more than 6 internationally certified geneticists, and more than 100 highly trained & certified molecular biologists & operations team. All reports are reviewed by an american board certified medical geneticist.
5. How will I receive my report?
All reports are delivered digitally through our web-results portal with unique access to every patient.