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HomeLab Services GuideTests
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Clear
Overview
ข้อมูลทั่วไป Specimen
ข้อมูลสิ่งส่งตรวจ Performance
ข้อมูลการทดสอบ Clinical & Interpretation
ข้อมูลทางคลินิก
 
Test Code (รหัสการทดสอบ):
092-10-0063
Order Name (ชื่อการทดสอบ):
Alzheimer's Disease report (WES add-on panel)
 
Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):
Not required

Document required:
Consent for Genetic Testing (LAB-08171)
 
Turnaround Time (ระยะเวลารอผล):
Reported within 6-8 weeks
 
Useful For (ประโยชน์การทดสอบ):
•Individuals who have a family or personal history of certain Alzheimer's Disease.
•Healthy people who are interested to know about the risk of your body’s predisposition for developing certain Alzheimer's Disease.
 
Methodology (วิธีการทดสอบ):
Data analysis using Whole Exome Sequencing (WES) data
 
Test List In Profile (การทดสอบใน Profile):
1. Alzheimer report (APP, PSEN1, PSEN2)
2. APOE genotyping
 
AliasesName (ชื่อเรียกอื่นๆ) :
whole exome sequencing,
ALZ,
Dementia,
APOE
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0063
Order Name (ชื่อการทดสอบ):
Alzheimer's Disease report (WES add-on panel)
 
Patient Preparation (การเตรียมตัวผู้ป่วย):
Patient must has Whole exome sequencing (WES) before order this test
 
Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):
Not required

Document required:
Consent for Genetic Testing (LAB-08171)
 
Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):
Not required
 
Sub Mission Container (ภาชนะส่งตรวจ):
N/A
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0063
Order Name (ชื่อการทดสอบ):
Alzheimer's Disease report (WES add-on panel)
 
Schedule (ตารางการทดสอบ):
N/A
 
Turnaround Time (ระยะเวลารอผล):
Reported within 6-8 weeks
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
Research and Development laboratory, Tel 14252
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0063
Order Name (ชื่อการทดสอบ):
Alzheimer's Disease report (WES add-on panel)
 
 
Clinical Information (ข้อมูลทางคลินิก):
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.

APP
APP encodes amyloid precursor protein, a transmembrane protein which is cleaved to form amyloidogenic Aβ peptides. Mutations in APP are associated with familial forms of early onset Alzheimer's disease as well as with Cerebral Amyloid Angiopathy (CAA). 
PSEN1
PSEN1 encodes presenilin-1, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. More than 300 mutations in PSEN1 have been reported and mutations in PSEN1 are the most common cause of early onset Alzheimer's disease.
PSEN2
The gene PSEN2 encodes presenilin-2, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Missense mutations in PSEN2 are a rare cause of early onset Alzheimer's disease.

APOE
APOE encodes a secreted apolipoprotein involved in lipid metabolism. It is best known for its three major alleles—APOE2, APOE3, and APOE4 —with APOE4 increasing the risk for Alzheimer’s disease and APOE2 reducing it. 
 
Clinical Reference (เอกสารอ้างอิง):
1. 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
2. https://www.alzforum.org/mutations