Mediclinic Precise

With comprehensive genetic testing, we can identify multiple risk factors that are disease related all at once, instead of analysing single gene risk factors.

Using AI-based approaches to analyse and interpret complex genomic data, we enable clinicians to deliver quicker, easier, and more actionable treatment planning.

Our laboratory is CAP-accredited and offers accurate analysis of the highest quality, allowing for robust variant detection.

Reports are personalised to each patient, integrating genetics, heredity, symptoms, medical history, and environmental factors. This helps healthcare professionals start treating their patients, taking into account their genetic idiosyncrasies.

Our services are rendered by highly skilled, internationally experienced professionals with extensive experience in the fields of medical genetics, molecular diagnostics, precision medicine, genomics, genetic counselling, and bioinformatics. They offer extensive clinical interpretation of your test results and can provide trusted recommendations for follow-up testing and medical management, if required.

UAE-based, state-of-the-art technology provides accurate interpretation of results with minimal waiting time. Timely release of your genetic results can provide peace of mind and help with early implementation of your management and treatment plan.

Pre- and/or post-test genetic counselling provides vital support to patients and their families throughout the testing journey.

All patient data is kept confidential, safe, and secure in accordance with all applicable local and global laws governing health data. As a London-listed, international private healthcare provider, we are committed to protecting your information.

BRCA genetic testing identifies pathogenic and likely pathogenic mutations in the BRCA1 and BRCA2 genes. Mutations in the BRCA genes are predominantly related to breast, ovarian, and fallopian tube cancer, although other types are also associated. In the general population, 12% of women will develop breast cancer during their lifetime and 2.7% will die of the disease, whereas 1–2% of women will develop ovarian cancer and 1% will die of the disease. If clinically harmful mutations are identified in either BRCA gene, a woman’s risk of breast cancer increases to 45–72% by the age of 70. Mutations in the BRCA1 gene increase ovarian cancer risk to 39–44%, and BRCA2 mutations increase ovarian cancer risk to 11–17% by the age of 70. The use of BRCA panel testing and cascade testing may identify asymptomatic at-risk individuals who should then be referred to appropriate specialists for follow-up, surveillance, or surgery when indicated. By combining phenotype information with genotype data using our AI-based bioinformatics pipeline, we accurately analyse and identify BRCA1 and BRCA2 variants and deliver high-quality clinical reporting. Analysis and data interpretation are done by geneticists using the latest publications, population databases, and guidelines. The clinical and family history of the patient, including symptoms, age of onset, prevalence, and inheritance manner of the disease, are considered during data analysis. Variants classified as pathogenic or likely pathogenic will be reported.

Genetic testing for hereditary cancers can provide life-changing results in affected patients and their relatives, and give the opportunity for potential life-saving intervention. It is a multigene testing process, covering 118 clinically relevant cancer-associated genes. Each gene in this panel has been selected based on its risk potential in the development of one or more of the following cancers: breast, ovarian, colorectal, gastric, thyroid, endometrial, pancreatic, melanoma, renal, and prostate, among others. The use of multigene panel testing and cascade testing may identify asymptomatic at-risk individuals who should then be referred to appropriate specialists for follow-up, surveillance, or surgery when indicated. The test is performed using the latest next-generation sequencing technology.

By combining phenotype information with genotype data using our AI-based bioinformatics pipeline, we accurately analyse and identify disease-causing variants and deliver high-quality, comprehensive clinical reporting. Analysis and data interpretation are done by geneticists using the latest publications, population databases, and guidelines. The clinical and family history of the patient, including symptoms, age of onset, prevalence, and inheritance manner of the disease, are considered during data analysis. Variants classified as pathogenic or likely pathogenic will be reported.

Fetal chromosome abnormalities, specifically aneuploidy, which is an abnormal number of chromosomes, are a common cause of reproductive failure, congenital anomalies, developmental delay, and intellectual disabilities. Aneuploidy affects approximately one in 300 live births, with much higher rates associated with miscarriage and stillbirth. NIPT (non-invasive prenatal testing) is a genetic screening test for the detection of congenital chromosome abnormalities from a maternal peripheral whole blood sample in pregnant women from as early as 10 weeks’ gestation. NIPT therefore provides an early opportunity to understand the potential risk of chromosomal abnormality to your baby. NIPT can also determine your baby’s gender at an earlier stage than ultrasound. The American College of Obstetricians and Gynecologists (ACOG) recommends all pregnant women be offered the option of aneuploidy screening, regardless of maternal age or risk of chromosomal abnormality.

Our NIPT is an in vitro diagnostic test intended for use as a screening test for the detection of either the Basic option (Chromosome 21, 18, 13) or genome-wide fetal genetic anomalies from maternal peripheral whole blood specimens in pregnant women of at least 10 weeks’ gestation.

Our NIPT uses whole genome sequencing to also detect partial duplications and deletions for all autosomes, and aneuploidy status for all chromosomes. The test offers an option to request the reporting of sex chromosome aneuploidy (SCA).

Cell-free DNA (cfDNA) testing and/or non-invasive prenatal testing (NIPT) is a genetic test that can be taken from as early as 10 weeks into your pregnancy to screen for specific chromosomal abnormalities that might affect the health of your baby. NIPT is also sometimes used to determine the gender of your baby at an earlier stage than ultrasound. The Mediclinic Precise NIPT test screens for all the common trisomies and sex chromosomes.

Preimplantation genetic testing (PGT) is widely used today in the in vitro fertilisation (IVF) process for selecting genetically normal (euploid) embryos for transfer, and to improve clinical outcomes of IVF in terms of embryo implantation and clinical pregnancy. All pregnancies are at risk of chromosome abnormality. Nearly 50% of the embryos produced in an IVF cycle are aneuploid (genetically abnormal). Aneuploidies are a major cause of difficulties achieving pregnancy in couples of all ages. However, as a woman becomes older, the quality of her eggs decreases and her risk of producing an embryo with chromosome abnormalities increases. This is why a woman’s age is critical for pregnancy success. Embryo screening (PGT) improves the chances of achieving a successful pregnancy in all IVF patients. In particular, it is suitable for:

• Couples with recurrent pregnancy loss
• Couples with previous IVF failure attempts
• Women of advanced reproductive age (over 35)
• Couples with a family history of chromosome conditions or birth defects
• Couples who have had a child with a chromosomal disorder
• Couples opting for confident single embryo transfer

For patients with symptoms of genetic disorders, Mediclinic Precise’s whole exome sequencing plays a significant role in rapidly detecting possible variants. It offers a one-step solution for individuals with complex phenotypes with multiple differential diagnoses, inconclusive previous genetic tests, genetic heterogeneity, or where it is unclear which genes cause specific genetic conditions. Whole exome sequencing (WES) is one of the most comprehensive genetic tests, which identify the variants in a patient’s DNA that are causative or related to their medical conditions. This test utilises a robust next-generation sequencing (NGS) technique to detect single nucleotide and copy number variants by focusing on the entire protein-coding regions of the genome, approximately 20,000 genes (the exome). While the exome comprises only ~1% of the whole genome, 85% of known disease-causing mutations are found there.

By combining phenotype information with genotype data using our AI-based bioinformatics pipeline, we accurately analyse and identify disease-causing variants and deliver high-quality, comprehensive clinical reports. Analysis and data interpretation are done by geneticists using the latest publications, population databases, and guidelines. The clinical and family history of the patient, including symptoms, age of onset, prevalence, and inheritance manner of the disease, are considered during data analysis. Variants classified as pathogenic, likely pathogenic, and variants of uncertain significance (VUS) will be reported. Mediclinic Precise’s WES process is validated and performed in a CAP-accredited laboratory to achieve and ensure high standards in quality, accuracy, and performance, with the whole process under strict quality control and providing a precise diagnosis.

Carrier screening is recommended for individuals considering a pregnancy or in early pregnancy. If an individual is identified as a carrier for a specific disease, their reproductive partner should be offered testing in order to receive informed genetic counselling about potential reproductive outcomes. Carrier screening is recommended for individuals with a positive family history of a genetic condition, or for individuals without a family history of a genetic disease. Carrier screening should be considered for ethnicities with high consanguinity. The test is performed by comprehensive whole exome sequencing using next-generation sequencing technology. Carrier screening testing considers genes that are inherited in an autosomal recessive or X-linked manner and are associated with known genetic conditions. Analysis and data interpretation are done by geneticists using the latest publications, population databases, and guidelines. Likely pathogenic and pathogenic variants associated with known genetic diseases will be reported.

Genetic counsellors have advanced training in medical genetics and counselling to interpret genetic test results, and to guide and support patients seeking more information about things such as:

• How inherited diseases and conditions might affect them or their families
• How family and medical histories may impact the chance of disease occurrence or recurrence
• Which genetic tests may or may not be right for them, and what those tests may or may not show
• How to make the most informed choices about their healthcare conditions

Our team

Our clinical geneticists and genetic counsellors provide patients with a continuum of care throughout their diagnosis, genetic testing, and post-test journey.

Above all, we emphasise close communication between our various team members, our patients, and their families, to empower them with information regarding their healthcare and to facilitate informed decision-making.