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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. Consent for Genetic Testing (PGM-00101)
2. Questionnaire for WES and WGS screening test

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):

Next generation sequencing (NGS), Whole exome sequencing (WES)

Test List In Profile (การทดสอบใน Profile):

1. Cancer screen report
2. Cardio screen report
3. Secondary finding report
4. Malignant Hyeprthermia report (CACNA1S, RYR1)

AliasesName (ชื่อเรียกอื่นๆ) :

whole exome sequencing, 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. Consent for Genetic Testing (PGM-00101)
2. Questionnaire for WES and WGS screening test

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°C to 8°C 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 14596

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. This screen includes:

1. Cancer Screen: Analyzes over 90 genes associated with various inherited cancers, including breast, ovarian, colorectal, melanoma, gastric, pancreatic, prostate, renal, parathyroid, pituitary adenoma, neuroblastoma, leukemia, and other familial cancer syndromes.

2. Cardio Screen: Analyzes over 95 genes related to cardiovascular conditions such as aortopathies, arrhythmias, cardiomyopathies, thrombophilia, neuromuscular conditions, hypercholesterolemia, congenital heart disease, pulmonary hypertension, and other heart syndromes.

3. Additional Findings: Analyzes 14 genes associated with 9 additional conditions related to inborn errors of metabolism and miscellaneous phenotypes.

4. Pharmacogenomics Screen: Analyzes CACNA1S and RYR1 genes, which are associated with the risk of developing malignant hyperthermia when administered potent volatile anesthetics (desflurane, enflurane, ether, halothane, isoflurane, methoxyflurane, and sevoflurane) or the depolarizing muscle relaxant succinylcholine.

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.