Clinical genomics is an interdisciplinary field using genomic data from patients to diagnose, treat, and prevent diseases by analyzing the genetic variations and their effects on the body. Some of the genomic data include DNA sequences, epigenetic modifications, and other molecular markers. These data can help identify the risk factors, prognosis, and response to therapies for various conditions, such as cancer, cardiovascular disease, neurological disorders, and rare diseases.
Carrier screening provides couples with information on their risk of having a child affected by one or more of a large range of genetic conditions. GeneAware™ is a comprehensive universal carrier screening panel that screens for genetic variations in 400+ genes known to be associated with genetic disorders, such as congenital adrenal hyperplasia (CAH) and spinal muscular atrophy (SMA).
Carrier screening is recommended for all reproductive-aged women who are pregnant or planning to get pregnant.
Approximately 1 in 6 people in Southeast Asia will be affected by cancer during their lifetimes. Hereditary cancers make up 5-10% of cancer cases and are caused by inherited pathogenic germline mutations in one or more genes.
Hereditary cancer testing is key to identifying patients and families who may be at increased risk of developing certain types of cancer for early detection and prevention.
Through robust sequencing of up to 30,000 genes, Whole Exome Sequencing can provide important information about the underlying genetic causes to guide treatment decisions.
Indications for testing include exhausted genetic testing options, patients with a long list of differential diagnoses, atypical presentation of disease.
Whole Genome Sequencing (WGS) is an analysis of a patient’s entire nuclear and mitochondrial genomes. Compared to gene panels which only examine specific changes in a small subset of DNA, WGS can capture virtually all disease-causing genetic variations in both coding and non-coding regions, making it the most comprehensive germline genetic testing.
It is suitable for patients who have a broad spectrum of phenotypic features without an obvious clinical diagnosis.
Indications for testing include Intellectual Disability, Autism Spectrum Disorders, Differential Diagnoses, Development Delays, Multiple Congenital Anomalies, Failure to Thrive, Patients with Extensive Disease, Dysmorphic Features, Epilepsy Syndromes, Neurodevelopment Disorders.
APEX Tissue is a 50-gene, targeted Next-Generation Sequencing (NGS) hotspot panel, which is specially curated for the detection of sensitizing and resistance genetic alterations to guide personalized treatment selection in patients with solid tumours.
Patient profiles suitable for APEX Tissue include Non-Small Cell Lung Cancer, Colorectal Cancer, and Breast Cancer.
For more information, contact us or visit https://mirxes.com/cancer_treatment_selection/
