Order Name (ชื่อการทดสอบ):
Package Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving
Clinical Information (ข้อมูลทางคลินิก):
Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving include cancer screen, cardio screen, and Pharmacogenomics screen.
For cancer screen, more than 90 genes related with variety type of inherited cancers includung Breast, Ovarian, Colorectal, Melanoma, Gastric cancer, Pancreatic, Prostate, Renal, Parathyroid, Pituitary adenoma, Neuroblastoma, leukemia, and other familial cancer syndromes were analzyed and reported.
For cardio screen, more than 95 genes related with cardiovascular conditions including Aortopathies, Arrhythmias, Cardiomyopathies, Thrombophilia, Neuromuscular condition, Hypercholesterolemia, congenital heart disease, Pulmonary hypertension, and Other heart syndromes were analzyed and reported.
For pharmacogenomics, CACNA1S and RYR1 genes related with risk of developing malignant hyperthermia if administered potent volatile anesthetics ((desflurane (suprane®), enflurane, ether, halothane, isoflurane, methoxyflurane (penthrox®) and sevoflurane)) or the depolarizing muscle relaxant succinylcholine (also known as suxamethonium).
Clinical Reference (เอกสารอ้างอิง):
1. https://www.omim.org (Retrieved 1 July 2022)
2.https://www.cancer.gov/publications/dictionaries/cancer-terms/def/inherited-cancer-syndrome ((Retrieved 1 July 2022)
3. Cirino AL, Harris S, Lakdawala NK, et al. Role of Genetic Testing in Inherited Cardiovascular Disease: A Review. JAMA Cardiol. 2017;2(10):1153–1160. doi:10.1001/jamacardio.2017.2352
4. Gonsalves, Stephen G., et al. "Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR 1 or CACNA 1S genotypes." Clinical Pharmacology & Therapeutics 105.6 (2019): 1338-1344.