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

Document required:
For BH:
1. Consent for Genetic Testing (PGM-00101)
2. Questionnaire for WES and WGS screening test (TrakCare)

For B2B:
1. Requisition and Consent Form for WES or WGS screening, Please click LINK

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):

WES screening panel
1. Cancer screen report
2. Cardio screen report
3. Malignant Hyeprthermia report
4. Additional finding report

AliasesName (ชื่อเรียกอื่นๆ) :

Whole exome sequencing, WES, cancer, genetic, cardio,Malignant Hyeprthermia

Test Code (รหัสการทดสอบ):

LAB58

Order Name (ชื่อการทดสอบ):

Package Advanced Genetic Health Screen using Whole Exome Sequencing (WES) plus DNA saving

Patient Preparation (การเตรียมตัวผู้ป่วย):

Preparation not required

Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):

Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):

Whole blood, K3 EDTA (K3E) (Lavender Top) 3 mL

Sub Mission Container (ภาชนะส่งตรวจ):

K3 EDTA (K3E) (Lavender Top)

Rejection Criteria (เกณฑ์ปฏิเสธสิ่งส่งตรวจ):

Use heparin as anticoagulant,
Severe clotted specimen

Specimen Stabillity (ความคงตัวของสิ่งส่งตรวจ):

EDTA Whole Blood, Refrigerated 2°C to 8°C for 7 days

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):

Laboratory – Clinical Genomics Tel 14252, 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:

This comprehensive genomic screen utilizes Whole Exome Sequencing (WES), combined with DNA storage for potential future analyses, to evaluate inherited risks for cancer, cardiovascular disease, malignant hyperthermia, and selected metabolic and miscellaneous conditions.

Cancer Screen
Analyzes over 92 genes associated with a variety of inherited cancers, including breast, ovarian, colorectal, melanoma, gastric, pancreatic, prostate, renal, parathyroid, pituitary adenoma, neuroblastoma, leukemia, and other familial cancer syndromes.

Cardio Screen
Analyzes over 98 genes related to cardiovascular conditions such as aortopathies, arrhythmias, cardiomyopathies, thrombophilia, neuromuscular disorders, hypercholesterolemia, congenital heart disease, pulmonary hypertension, and other hereditary cardiac syndromes.

Malignant Hyperthermia Screen
Analyzes 3 genes associated with susceptibility to malignant hyperthermia, a life‑threatening hypermetabolic reaction triggered by potent volatile anesthetics (desflurane, enflurane, ether, halothane, isoflurane, methoxyflurane, sevoflurane) or the depolarizing muscle relaxant succinylcholine.

Additional Findings
Analyzes 16 genes associated with inborn errors of metabolism and other clinically relevant phenotypes, providing additional actionable or medically significant findings where applicable.

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. 20172(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.