Genetika Tests Description

Test Description Technology
Preimplantation Genetic Screening (PGS) PGS allows for rapid, simultaneous and affordable detection of aneuploidies in the 24 chromosomes to help clinics in selecting chromosomally healthy embryos for transfer and increasing pregnancy success rates in IVF NGS
Gender selection - includes detection of chromosomal and sex anomalies ,18 ,21 13, X, Y Fast, precise and cost-effective molecular genetics test used to determine the gender of embryos during the IVF process. QF-PCR
Preimplantation Genetic Diagnosis (PGD) – preventing the transmission of single gene disorders PGD allowing the detection of a specific mutation in the embryos, a powerful tool for those couples resorting to IVF to prevent a single-gene disorder being passed on to their children (e.g. Thalassemia, Spinal Muscular Atrophy, Cystic Fibrosis). Sanger
Mutation Identification – known conditions Sanger Sequencing is used to detect causative mutation for patients suffering from single gene disorders or there is a known family history for a particular genetic disease. Sanger
WES (Single) to identify genetic disorders WES Single is useful for patients suffering from complex genetic disorders where selecting an optimal diagnostic panel is difficult, a panel is not available, or where previous genetic testing has been negative. NGS
WES (Duo) - a comprehensive strategy for exome-based preconception carrier screening WES Duo provides the possibility of genome-wide preconception carrier screening (PCS). This diagnostics approach contains a filter strategy to rapidly identify the majority of relevant pathogenic mutations in genes shared by the couple. An effective diagnostic workflow includes recessive conditions first described in GCC region. NGS
WES (Trio) – analysis of an index patient and parents Trio approach in WES improves diagnostic rate by facilitating sequence variant analysis and by enabling detection of de novo mutations, which underline many of the severe diseases. NGS
Carrier Genetic Test The carrier screening panel is a genetic test that simultaneously analyses mutations in 4800 genes associated with inherited diseases. The high rate of consanguinity, genetic and geographically isolates have greatly impacted the landscape of genetic disorders in the Middle East. We have therefore integrated NGS, bioinformatics, and local clinical data into an effective diagnostic workflow. Test is recommended in case of consanguineous and nonconsanguineous marriage with any family history of genetic diseases and couples interested in ensuring that an inherited disorder is not passed on to their children. NGS
NIPT - early genetic diagnosis of Trisomy 21, Trisomy 18, Trisomy 13 and Fetal sex determination CE-IVD non-invasive prenatal screening test using the latest advances in DNA technology. Enhancing existing prenatal screening pathways for pregnant woman with fast, reliable results and reducing the need for invasive tests and the associated stress and anxiety. NGS
Pregnancy loss analysis - includes detection of chromosomal and sex anomalies 21 ,18 ,16 ,15 ,13, X, Y Identification of the possible cause of fetal loss significantly reduces the long-term psychological distress associated with a miscarriage and enables improved genetic counselling in future pregnancies. Eliminate cell culture, increase analysis success rates and speed up pregnancy loss aneuploidy analysis for chromosomes 22 ,21 ,18 ,16 ,15 ,13 and XY using QF-PCR. QF-PCR
Male infertility and Y-chromosome microdeletions DNA test is screening for Y-chromosome microdeletions in azoospermic or severely oligospermic patients. QF-PCR
Molecular Genetics Support Support for situations requiring specialized expertise in molecular genetic diagnostics: discussions on selecting an optimal diagnostic tool for your patient questions concerning the clinical statement and discussions on variant classification requests that require tailoring of our service to your clinical needs - “know how” of the local clinical conditions  
Genetic Counselor Service Assistance in genetic counseling of your patient and the family provides genetic counseling and psychological support for those with genetic disorders, birth defects, positive newborn screening results, or who may be at risk for a variety of inherited condition. provides education to healthcare professionals and community and disease organizations. provides clinical education experience for students as requested.  




IVF Testing Strategy