Test Code (รหัสการทดสอบ):
LAB69
Order Name (ชื่อการทดสอบ):
Package Essential genetic follow-up
Clinical Information (ข้อมูลทางคลินิก):
Reclassifying variants can have a significant impact on patient care. In up to 41.3% of cases where variants are reclassified, it leads to changes in medical management. Variant reclassification can impact diagnosis, precision therapy, and medical surveillance recommendations for patients. This service includes reclassification of variants previously identified in the Cancer Screen, Cardio Screen, and Additional Findings panels.
Alzheimer's disease (AD) is one of the most common neurodegenerative disorders, accounting for up to 75% of all dementia cases. AD can be categorized into two major types: early-onset AD (EOAD) and late-onset AD (LOAD). EOAD is typically inherited in an autosomal dominant manner and occurs before the age of 60–65 years. Mutations in the APP, PSEN1, and PSEN2 genes are the most common causes of EOAD. This panel analyzes 3 genes associated with hereditary Alzheimer's disease.
Kidney disease is a worldwide public health problem. Understanding the distinction between acute kidney injury (AKI) and chronic kidney disease (CKD) is crucial for proper diagnosis and management. AKI typically develops rapidly, often over a few hours to days, whereas CKD progresses slowly over three months to years and is characterized by the gradual loss of kidney function. CKD can be caused by various factors, including diabetes, hypertension, autoimmune diseases, and genetic predispositions. Monogenic diseases are estimated to account for approximately 70% and 10–15% of the overall prevalence of end-stage kidney disease (ESKD) in children and adults, respectively. Therefore, early detection of a monogenic cause of CKD can have important implications for patients and their family members, particularly in terms of disease management, prognosis, genetic counselling, and screening of at-risk relatives. This panel analyzes 103 genes associated with hereditary kidney diseases and monogenic causes of CKD.
Clinical Reference (เอกสารอ้างอิง):
1. Walsh N, Cooper A, D°Ckery A, O 'Byrne JJ. Variant reclassification and clinical implications. Journal of medical genetics. 2024 Mar 161(3):207-11.
2. 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
3. Knoers N, Antignac C, Bergmann C, et al. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant. 202237(2):239-254. doi:10.1093/ndt/gfab218
4. Levey AS, Eckardt KU, Tsukamoto Y, et al. Definition and classification of chronic kidney disease: a position statement from Kidney Disease: Improving Global Outcomes (KDIGO). Kidney Int. 200567(6):2089-2100. doi:10.1111/j.1523-1755.2005.00365.x
5. Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, Van Eerde AM. The expanding phenotypic spectra of kidney diseases: insights from genetic studies. Nature Reviews Nephrology. 2016 Aug12(8):472-83.