LAB66

Advanced genetic follow-up

1. This test can only be requested for patients who have previously undergone Whole Exome Sequencing (WES) at Bumrungrad Hospital.

2. Do not eat, drink (except for water), smoke, brush your teeth or chew gum for 1 hour before collecting the buccal sample

Buccal swab 1 swab

Document required:
1. Consent for Genetic Testing (PGM-00101)
2. Questionnaire for WES and WGS screening test (TrakCare)
3. Pharmacogenomics Requisition form (MyDNA)

Buccal swab 1 swab

Buccal swab

1. No sticker label on swab. 
2. In the event where a sample was not adequately collected, damaged upon arrival to the lab or forms were not filled in their entirety, you will be resupplied with a new myDNA test kit for sample recollection.

Buccal swab is ready to use and does not require additional preparation.
It must be stored in its original package at a temperature between 2 and 30°C until the time of use.
Do not overheat. Do not incubate or freeze prior to use.
If incorrectly stored, its effectiveness will be compromised.
Do not use after the expiry date clearly printed on the tube and on each single package.
The sample must be collected immediately after opening the transparent bag.

LAB66

Advanced genetic follow-up

Reported within 4 weeks

1.For Whole exome sequencing (WES), Laboratory – Clinical Genomics Tel 14252, 14596
2.For Pharmacogenomics, Sent Out to MyDNA, Australia, Laboratory – referral Tel 14160-2

LAB66

Advanced genetic follow-up

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.

Pharmacogenomics (PGx) laboratory testing has become increasingly useful in the management of medications in clinical practice. By utilizing PGx test results, clinicians can more accurately determine how a patient metabolizes certain medications, assisting in identifying whether a medication will be ineffective, work as expected, or cause adverse drug reactions (ADRs) that may result in increased morbidity or mortality. This testing covers genes encoding cytochrome P450 (CYP) enzymes, primarily located in the small intestine and liver, as well as other genes such as HLA genes. PGx testing can help avoid ADRs or medication inefficacy by guiding adjustments to current or future medication doses. It can also help identify the most appropriate medications to use — or those to avoid — thereby reducing reliance on the trial-and-error approach to dosing and medication selection.

1. Walsh N, Cooper A, Dockery A, O'Byrne JJ. Variant reclassification and clinical implications. Journal of medical genetics. 2024 Mar 1;61(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. 2022;37(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. 2005;67(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 Aug;12(8):472-83.
6. Cacabelos R, Naidoo V, Corzo L, Cacabelos N, Carril JC. Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions. Int J Mol Sci. 2021 Dec 10;22(24):13302. doi: 10.3390/ijms222413302.