APOE for Alzheimer report (WES/WGS add-on panel)

Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):

Specimen: Not required

Document required:
For BH: Consent for Genetic Testing (PGM-00101)
For B2B: Consent for Genomic Medicine Testing, Please click LINK

Turnaround Time (ระยะเวลารอผล):

Report within 2 weeks

Useful For (ประโยชน์การทดสอบ):

Healthy people who are interested to know about the risk of APOE gene for developing Alzheimer's Disease.

Methodology (วิธีการทดสอบ):

Data analysis using Whole Exome Sequencing (WES) data

Test List In Profile (การทดสอบใน Profile):

1. APOE Alzheimer report (WES add-on panel)

AliasesName (ชื่อเรียกอื่นๆ) :

whole exome sequencing, WES, APOE, Alzheimer

Test Code (รหัสการทดสอบ):

092-10-0084

Order Name (ชื่อการทดสอบ):

APOE for Alzheimer report (WES/WGS add-on panel)

Patient Preparation (การเตรียมตัวผู้ป่วย):

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

Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):

Specimen: Not required

Document required:
For BH: Consent for Genetic Testing (PGM-00101)
For B2B: Consent for Genomic Medicine Testing, Please click LINK

Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):

Not required

Sub Mission Container (ภาชนะส่งตรวจ):

N/A

Test Code (รหัสการทดสอบ):

092-10-0084

Order Name (ชื่อการทดสอบ):

APOE for Alzheimer report (WES/WGS add-on panel)

Turnaround Time (ระยะเวลารอผล):

Report within 2 weeks

Performing Location (หน่วยงานที่ทำการทดสอบ):

Laboratory – Clinical Genomics Tel 14252, 14596

Test Code (รหัสการทดสอบ):

092-10-0084

Order Name (ชื่อการทดสอบ):

APOE for Alzheimer report (WES/WGS add-on panel)

Clinical Information (ข้อมูลทางคลินิก):

Apolipoprotein E (APOE) is a key lipid transport protein, and its common alleles (ε2, ε3, ε4) influence an individual’s risk of developing late‑onset Alzheimer’s disease. The ε4 allele is associated with an increased relative risk and an earlier average age of onset, whereas ε2 is generally considered protective compared with the reference ε3/ε3 genotype. APOE genotyping can therefore provide risk‑modifying information in patients with cognitive symptoms or a strong family history of dementia, and may support the clinical assessment in atypical or early‑onset presentations. However, APOE status is neither necessary nor sufficient to establish the diagnosis of Alzheimer’s disease: many ε4 carriers never develop dementia, and Alzheimer’s disease can occur in individuals without ε4. Test results should be interpreted in the context of age, family history, neurocognitive evaluation, neuroimaging, and other biomarkers, and are best discussed with patients within a genetic counselling framework, emphasizing that this is a susceptibility marker rather than a definitive diagnostic or predictive test.

Clinical Reference (เอกสารอ้างอิง):

1. Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeux R, Bird T American College of Medical Genetics and the National Society of Genetic Counselors. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011 Jun13(6):597-605.
2. Van Cauwenberghe C, Van Broeckhoven C, Sleegers K. The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med. 2016 May18(5):421-30.
3. Li Z, Shue F, Zhao N, Shinohara M, Bu G. APOE2: protective mechanism and therapeutic implications for Alzheimer 's disease. Mol Neurodegener. 2020 Nov 415(1):63.