Services

Please make sure the following documents are provided along with the sample:

• Request form
• Consent Form
• Medical history
• Additional patient medical reports

BRCA1, BRCA2 testing with copy-number analysis

BRCA genes genetic testing identifies pathogenic and likely pathogenic mutations in 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 there are clinically harmful mutations identified in either BRCA genes, a woman's risk of breast cancer increases to 45% to 72% by the age of 70 years. Mutations in the BRCA1 gene increase ovarian cancer risk to 39-44%, and BRCA2 mutations increase ovarian cancer risk to 11% to 17% by 70 years of age.  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, likely pathogenic will reported.

Comprehensive cancer panel

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 technology of next generation sequencing.

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, likely pathogenic will be reported.

Exome sequencing

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, patients with genetic heterogeneity and where it is unclear which genes cause specific genetic conditions. Whole-exome sequencing (WES) is one of the most comprehensive genetic tests which identifies the variants in a patient’s DNA that are causative or related to their medical conditions. This test utilises a robust next-generation sequencing technique (NGS) to detect single nucleotide and copy number variants by focusing on the entire protein-coding regions of the genome, approximately 20,000 genes (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 being under strict quality control, and providing precise diagnosis.

Carrier screening with whole exome sequencing

Carrier screening testing is recommended for individuals considering a pregnancy or in early pregnancy.  If an individual is identified as carrier for a specific disease, the individual’s 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 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 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.