Clinical Information (ข้อมูลทางคลินิก):
Package GenomeHealth-Prestige
This comprehensive package offers a wide range of genetic screenings, including:
• Cancer Screening: Analysis of over 90 genes associated with various inherited cancers, such as Breast, Ovarian, Colorectal, Melanoma, Gastric, Pancreatic, Prostate, Renal, Parathyroid, Pituitary adenoma, Neuroblastoma, leukemia, and other familial cancer syndromes.
• Cardiovascular Screening: Evaluation of over 95 genes related to heart conditions, including Aortopathies, Arrhythmias, Cardiomyopathies, Thrombophilia, Neuromuscular conditions, Hypercholesterolemia, congenital heart disease, Pulmonary hypertension, and other heart syndromes.
• Additional Findings: Evaluation of over 14 genes related to various conditions such as Wilson disease, Biotinidase deficiency, Pompe disease, hereditary hemochromatosis, Alpha-1-antitrypsin deficiency.
• Malignant Hyperthermia Screening: Analysis of genes (CACNA1S and RYR1) associated with an increased risk of malignant hyperthermia, a potentially life-threatening reaction to certain anesthetics.
• MDS/AML Screening: Analysis of 69 genes related to bone marrow disorders, including Diamond-Blackfan anemia and Fanconi anemia.
• Alzheimer's Disease Screening: Analysis of 3 genes (APP, PSEN1, PSEN2) associated with Alzheimer's disease.
• Kidney Disease Screening: Evaluation of 103 genes related to various kidney diseases.
• APOE Screening: Analysis of 2 SNPs of the APOE gene, which are associated with the risk of cardiovascular and Alzheimer's diseases.
• Pharmacogenomics (PGx) Screening: Analysis of PGx genes according to Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines to optimize drug therapy.
• Wellness Prime (SNP and PICK): Includes over 100 detailed reports across 5 key categories, providing insights into sports performance, nutrient metabolism, psychological traits, lifestyle guidance, and environmental risk factors
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.
5. Rio-Machin, A., Vulliamy, T., Hug, N. et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun 11, 1044 (2020). https://doi.org/10.1038/s41467-020-14829-5
6. Giau VV, Bagyinszky E, Youn YC, An SSA, Kim S. APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease. International Journal of Molecular Sciences. 2019; 20(19):4757. https://doi.org/10.3390/ijms20194757
7. Knoers N, Antignac C, Bergmann C, et al. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant. 2022;37(2):239-254. doi:10.1093/ndt/gfab218
8. Eichner JE, Dunn ST, Perveen G, Thompson DM, Stewart KE, Stroehla BC. Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review. Am J Epidemiol. 2002 Mar 15;155(6):487-95.
9. https://cpicpgx.org/guidelines/ (Retrieved: 27 Jan 2025)
10. www.bangkokgenomics.com (Retrieved: 27 Jan 2025)