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Clear
 
Test Code (รหัสการทดสอบ):
092-10-0062

Order Name (ชื่อการทดสอบ):
MDS/AML report (WES add-on panel)

 
Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):
Not required

Document required:
1. Consent for Genetic Testing (LAB-08171)
2. Requisition form
 
Turnaround Time (ระยะเวลารอผล):
Reported within 2 weeks
 
Useful For (ประโยชน์การทดสอบ):
•Individuals who have a family or personal history of certain MDS/AML conditions.
•Healthy people who are interested to know about the risk of your body’s predisposition for developing certain MDS/AML conditions.
 
Methodology (วิธีการทดสอบ):
Data analysis using Whole Exome Sequencing (WES) data
 
Test List In Profile (การทดสอบใน Profile):
1. MDS/AML report (WES add-on panel)
 
AliasesName (ชื่อเรียกอื่นๆ) :
whole exome sequencing, Myelodysplastic syndromes, Acute myeloid leukemia, WES, MDS, AML
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0062

Order Name (ชื่อการทดสอบ):
MDS/AML 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:
1. Consent for Genetic Testing (LAB-08171)
2. Requisition form
 
Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):
Not required
 
Sub Mission Container (ภาชนะส่งตรวจ):
N/A
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0062

Order Name (ชื่อการทดสอบ):
MDS/AML report (WES add-on panel)

 
Schedule (ตารางการทดสอบ):
N/A
 
Turnaround Time (ระยะเวลารอผล):
Reported within 2 weeks
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
Research and Development laboratory, Tel 14252
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0062

Order Name (ชื่อการทดสอบ):
MDS/AML report (WES add-on panel)

 
 
Clinical Information (ข้อมูลทางคลินิก):
Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, dysplastic bone marrow, and peripheral blood cytopenias. Progression of MDS to acute myeloid leukemia (AML) occurs in up to 40% of patients. MDS and AML are most often sporadic, late-onset malignancies, but recent data indicate that hereditary MDS/AML may have a higher incidence than was thought previously, and may have a younger age of onset than sporadic cases. MDS/AML predisposition is associated with several primary bone marrow failure disorders including Diamond-Blackfan anemia, Fanconi anemia, severe congenital neutropenia, Shwachman-Diamond syndrome, and dyskeratosis congenita.
 
Clinical Reference (เอกสารอ้างอิง):
1. Rabbani, B., Tekin, M. & Mahdieh, N. The promise of whole-exome sequencing in medical genetics. J Hum Genet 59, 5–15 (2014). https://doi.org/10.1038/jhg.2013.114
2. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27. PMID: 19861545; PMCID: PMC2768590.                                            
3. Rio-Machin, A., Vulliamy, T., Hug, N. et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun 11, 1044 (2020). https://doi.org/10.1038/s41467-020-14829-5