MOLECULAR GENETICS

NGS

WB EDTA

* Fasting: No fasting is required for Whole Genome Sequencing (WGS). You can eat and drink normally before the blood collection. *
* Medications/Supplements: * Generally, routine medications and supplements do not interfere with DNA analysis. However, it is always advisable to inform your doctor and the lab about ALL current medications and supplements for a complete clinical picture, as they might be relevant to your clinical symptoms or overall health. *
* Clinical History Required (Absolutely Crucial): Providing detailed and accurate clinical information is paramount for the successful interpretation of the vast amount of genetic data generated by WGS. This information guides the geneticists and bioinformaticians in prioritizing and interpreting identified genetic variants relevant to your condition. * Detailed Phenotype/Symptoms: A comprehensive list of all medical conditions, symptoms, developmental milestones (for pediatric patients), and clinical findings. This should include any multi-system involvement (e.g., neurological, cardiac, muscular, metabolic, gastrointestinal, ophthalmological, audiological issues), developmental delay/regression, or specific physical characteristics. The more detailed the clinical information, the more targeted and accurate the interpretation can be. *
* Family History: A detailed family pedigree is vital, including information on any relatives with similar symptoms, other known genetic conditions, unexplained deaths, consanguinity (blood relationship between parents), or any known carriers of genetic variants. This helps understand potential inheritance patterns and identify at-risk individuals. *
* Previous Genetic Test Results: Provide results of any prior genetic tests that have been performed (e.g., chromosomal microarray, targeted gene panels, Whole Exome Sequencing, karyotype, biochemical metabolic screenings). This helps avoid redundant testing and focuses the WGS analysis if certain pathways have already been partially explored. *
* Imaging Results: (e.g., brain MRI, cardiac ultrasound, muscle imaging, X-rays) relevant to your symptoms. *
* Biochemical Test Results: (e.g., metabolic screening, enzyme assays, specific biomarker levels) if a metabolic or other specific disorder is suspected. *
* Reason for the test: Clearly state the primary reason for seeking WGS (e.g., undiagnosed complex multi-systemic illness, suspected rare genetic disorder with a broad differential, failure of previous genetic tests to provide a diagnosis). *
* Genetic Counseling (Highly Recommended and Often Required): * It is strongly recommended, and often a prerequisite, to have pre-test genetic counseling with a qualified genetic counselor or medical geneticist. *
* Reason: They can explain the comprehensive nature of WGS, its benefits, significant limitations, potential outcomes (including the higher likelihood of Variants of Uncertain Significance - VUS compared to targeted tests, and the policy on incidental findings), implications for yourself and your family, and help ensure truly informed consent regarding this extensive genetic analysis. *
* Informed Consent: * Due to the unparalleled breadth and potential implications of WGS (including the discovery of unexpected findings or predispositions), detailed informed consent is required. This typically covers what will be analyzed, how results will be interpreted, data privacy, and policies regarding secondary/incidental findings. *
* Trio Sequencing (Optional but Highly Recommended for Pediatric Patients): * While this test can be performed on a single individual, for pediatric patients or those with complex, undiagnosed conditions, analyzing samples from both biological parents (trio WGS) alongside the affected individual can significantly increase the diagnostic yield. This helps differentiate inherited variants from de novo mutations, making interpretation much easier and more reliable. Your referring clinician or genetic counselor will advise if trio WGS is recommended.