LAB66

Advanced genetic follow-up

1. Patient must has Whole exome sequencing (WES) before order this test

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
3. Pharmacogenomics Requisition form 

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), Research and Development laboratory, Tel 14596
2.For Pharmacogenomics, Sent Out to MyDNA, Australia 
Referral Lab Services, Laboratory Department 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.

Alzheimer’s disease (AD) is one of the most common neurodegenerative disorders, which accounts 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 usually inherited autosomal dominantly, and occurs before the age of 60–65 years. APP, PSEN1 and PSEN2 genes are most common cause of EOAD.

Kidney disease is a worldwide public health problem. Understanding the differences 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 a few days. On the other hand, 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 such as diabetes, hypertension, autoimmune diseases, and genetic predispositions.
Monogenic diseases are estimated to account for 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 for CKD can have important implications for patients and their family members, for instance in terms of management, prognosis, genetic counselling and screening of at-risk family members.

Pharmacogenomics (PGx) lab testing has become increasingly useful in the managing of medications in clinical practice. By utilizing PGx lab test results, clinicians may now more accurately determine how a patient can metabolize certain medications to assist in identifying whether a medication will not work, work as expected or cause adverse drug reactions (ADRs) that may result in increased morbidity or mortality. This testing covers genes which control descriptive P-450 enzymes or CYP enzymes, primarily located in the small intestine and liver and sometimes other genes such as HLA genes.  Pharmacogenomic (PGx) testing can help avoid adverse drug reactions (ADRs) or medication inefficacy by assisting in the adjustment of current or future medication doses. It can also help predict the best medications to use or those to avoid in advance by eliminating much of the existing dosing or medication selection method of trial and error.

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.