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Overview
ข้อมูลทั่วไป Specimen
ข้อมูลสิ่งส่งตรวจ Performance
ข้อมูลการทดสอบ Clinical & Interpretation
ข้อมูลทางคลินิก
 
Test Code (รหัสการทดสอบ):
LAB58
Order Name (ชื่อการทดสอบ):
Package Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving
 
Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ K3 EDTA (K3E) (Lavender Top) 3 mL, 1 tube OR saliva kit

Document required:
1. Completed Consent form LAB-08170-Rev03-EN-Consent-for-Genomic-Medicine-Testing.pdf
2. Completed Requisition form 1-Req-Questionnaire-for-WES-or-WGS-screening-testing_V2.pdf
 
Turnaround Time (ระยะเวลารอผล):
Reported within 6-8 weeks
 
Useful For (ประโยชน์การทดสอบ):
•Individuals who have a family or personal history of certain cancer or cardio conditions.
•Healthy people who are interested to know about the risk of your body’s predisposition for developing certain cancer and cardio conditions.
 
Methodology (วิธีการทดสอบ):
Whole Exome Sequencing (WES)
 
Test List In Profile (การทดสอบใน Profile):
1. WES-Cancer screen report 
2. WES-Cardio screen report 
3. WES-Secondary finding report
4. WES-Pharmacogenomics report (CACNA1S, RYR1)
 
AliasesName (ชื่อเรียกอื่นๆ) :
WES, cancer, genetic, cardio, PGx, Pharmacogenomics
 
 
 
Test Code (รหัสการทดสอบ):
LAB58
Order Name (ชื่อการทดสอบ):
Package Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving
 
Patient Preparation (การเตรียมตัวผู้ป่วย):
For blood sample: Preparation not required
For saliva sample: Do not eat, drink, smoke or chew gum for 30 minutes before giving your saliva sample 
 
Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ K3 EDTA (K3E) (Lavender Top) 3 mL, 1 tube OR saliva kit

Document required:
1. Completed Consent form LAB-08170-Rev03-EN-Consent-for-Genomic-Medicine-Testing.pdf
2. Completed Requisition form 1-Req-Questionnaire-for-WES-or-WGS-screening-testing_V2.pdf
 
Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):
Whole blood, K3 EDTA (K3E) (Lavender Top) 3 mL Or saliva kit (Oragene OG-510)
 
Sub Mission Container (ภาชนะส่งตรวจ):
K3 EDTA (K3E) (Lavender Top) Or saliva kit
 
Rejection Criteria (เกณฑ์ปฏิเสธสิ่งส่งตรวจ):
Use heparin as anticoagulant,
Severe clotted specimen
 
Specimen Stabillity (ความคงตัวของสิ่งส่งตรวจ):
EDTA: Refrigerated 2 OC to 8 OC for 7 days 
Saliva: Room temperature  (15°C–30°C) up to 2 months
 
 
 
Test Code (รหัสการทดสอบ):
LAB58
Order Name (ชื่อการทดสอบ):
Package Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving
 
Turnaround Time (ระยะเวลารอผล):
Reported within 6-8 weeks
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
Research and Development laboratory, Tel 14152
 
Specimen Retention Time (ระยะเวลาเก็บสิ่งส่งตรวจ):
3 months
 
 
 
Test Code (รหัสการทดสอบ):
LAB58
Order Name (ชื่อการทดสอบ):
Package Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving
 
 
Clinical Information (ข้อมูลทางคลินิก):
Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving include cancer screen, cardio screen, and Pharmacogenomics screen. 
For cancer screen, more than 90 genes related with variety type of inherited cancers includung Breast, Ovarian, Colorectal, Melanoma, Gastric cancer, Pancreatic, Prostate, Renal, Parathyroid, Pituitary adenoma, Neuroblastoma, leukemia, and other familial cancer syndromes were analzyed and reported. 
For cardio screen, more than 95 genes related with cardiovascular conditions including Aortopathies, Arrhythmias, Cardiomyopathies, Thrombophilia, Neuromuscular condition, Hypercholesterolemia, congenital heart disease, Pulmonary hypertension, and Other heart syndromes were analzyed and reported. 
For pharmacogenomics, CACNA1S and RYR1 genes related with risk of developing malignant hyperthermia if administered potent volatile anesthetics ((desflurane (suprane®), enflurane, ether, halothane, isoflurane, methoxyflurane (penthrox®) and sevoflurane)) or the depolarizing muscle relaxant succinylcholine (also known as suxamethonium).

Please find example report from this link below
19-WES-Summary-Report.pdf
 
 
Clinical Reference (เอกสารอ้างอิง):
1. https://www.omim.org (Retrieved 1 July 2022)
2.https://www.cancer.gov/publications/dictionaries/cancer-terms/def/inherited-cancer-syndrome ((Retrieved 1 July 2022)
3. Cirino AL, Harris S, Lakdawala NK, et al. Role of Genetic Testing in Inherited Cardiovascular Disease: A Review. JAMA Cardiol. 2017;2(10):1153–1160. doi:10.1001/jamacardio.2017.2352
4. Gonsalves, Stephen G., et al. "Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR 1 or CACNA 1S genotypes." Clinical Pharmacology & Therapeutics 105.6 (2019): 1338-1344