Cancer screen report (WES add-on panel)

Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):

Specimen/ Not required

Document required:
1. Consent for Genetic Testing (PGM-00101)
2. Requisition form

Turnaround Time (ระยะเวลารอผล):

Reported within 2 weeks

Useful For (ประโยชน์การทดสอบ):

•Individuals who have a family or personal history of certain Cancer condition.
•Healthy people who are interested to know about the risk of your body’s predisposition for developing certain Cancer condition.

Methodology (วิธีการทดสอบ):

Data analysis using Whole Exome Sequencing (WES) data

Test List In Profile (การทดสอบใน Profile):

WES screening panel
1. Cancer screen report (WES add-on panel)

AliasesName (ชื่อเรียกอื่นๆ) :

Whole exome sequencing, WES, cancer

Test Code (รหัสการทดสอบ):

092-10-0029

Order Name (ชื่อการทดสอบ):

Cancer screen report (WES 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:
1. Consent for Genetic Testing (PGM-00101)
2. Requisition form

Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):

Not required

Test Code (รหัสการทดสอบ):

092-10-0029

Order Name (ชื่อการทดสอบ):

Cancer screen report (WES add-on panel)

Turnaround Time (ระยะเวลารอผล):

Reported within 2 weeks

Performing Location (หน่วยงานที่ทำการทดสอบ):

Laboratory – Clinical Genomics Tel 14252, 14596

Test Code (รหัสการทดสอบ):

092-10-0029

Order Name (ชื่อการทดสอบ):

Cancer screen report (WES add-on panel)

Clinical Information (ข้อมูลทางคลินิก):

Kidney disease is a worldwide public health problem. Understanding the distinction between acute kidney injury (AKI) and chronic kidney disease (CKD) is crucial for proper diagnosis and management. AKI typically develops rapidly, often over a few hours to days, whereas CKD progresses slowly over three months to years and is characterized by the gradual loss of kidney function. CKD can be caused by various factors, including diabetes, hypertension, autoimmune diseases, and genetic predispositions.

Monogenic diseases are estimated to account for approximately 70% and 10–15% of the overall prevalence of end-stage kidney disease (ESKD) in children and adults, respectively. Therefore, early detection of a monogenic cause of CKD can have important implications for patients and their family members, particularly in terms of disease management, prognosis, genetic counselling, and screening of at-risk relatives. This panel analyzes 103 genes associated with hereditary kidney diseases and monogenic causes of CKD.

Clinical Reference (เอกสารอ้างอิง):

1. Knoers N, Antignac C, Bergmann C, et al. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant. 202237(2):239-254. doi:10.1093/ndt/gfab218
2. Levey AS, Eckardt KU, Tsukamoto Y, et al. Definition and classification of chronic kidney disease: a position statement from Kidney Disease: Improving Global Outcomes (KDIGO). Kidney Int. 200567(6):2089-2100. doi:10.1111/j.1523-1755.2005.00365.x
3. Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, Van Eerde AM. The expanding phenotypic spectra of kidney diseases: insights from genetic studies. Nature Reviews Nephrology. 2016 Aug12(8):472-83.