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HomeLab Services GuideTests
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Overview
ข้อมูลทั่วไป Specimen
ข้อมูลสิ่งส่งตรวจ Performance
ข้อมูลการทดสอบ Clinical & Interpretation
ข้อมูลทางคลินิก
 
Test Code (รหัสการทดสอบ):
092-70-0046
Order Name (ชื่อการทดสอบ):
Hereditary MDS/AML panel using Whole Exome Sequencing (WES)
 
Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ K3 EDTA (K3E) (Lavender Top) 3 mL, 2 tube

Document required:
Consent for Genetic Testing (LAB-08171)
 
Turnaround Time (ระยะเวลารอผล):
Reported within 6-8 weeks
 
Useful For (ประโยชน์การทดสอบ):
•Patient with broad spectrum of Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).
•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):
Next generation sequencing (NGS),
Whole exome sequencing (WES)
 
Test List In Profile (การทดสอบใน Profile):
1.Hereditary MDS/AML panel using Whole Exome Sequencing (WES)
2.WES - Secondary finding (as requested)
3.DF: Molecular Pathology Interpretation level5
 
AliasesName (ชื่อเรียกอื่นๆ) :
WES, MDS, AML
 
 
 
Test Code (รหัสการทดสอบ):
092-70-0046
Order Name (ชื่อการทดสอบ):
Hereditary MDS/AML panel using Whole Exome Sequencing (WES)
 
Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ K3 EDTA (K3E) (Lavender Top) 3 mL, 2 tube

Document required:
Consent for Genetic Testing (LAB-08171)
 
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):
Refrigerated 2 OC to 8 OC for 7 days
 
 
 
Test Code (รหัสการทดสอบ):
092-70-0046
Order Name (ชื่อการทดสอบ):
Hereditary MDS/AML panel using Whole Exome Sequencing (WES)
 
Turnaround Time (ระยะเวลารอผล):
Reported within 6-8 weeks
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
Research & Development, Tel.14252
 
 
 
Test Code (รหัสการทดสอบ):
092-70-0046
Order Name (ชื่อการทดสอบ):
Hereditary MDS/AML panel using Whole Exome Sequencing (WES)
 
 
Clinical Information (ข้อมูลทางคลินิก):
Hereditary MDS/AML panel using Whole Exome Sequencing (WES) test is the very large scale of genetic test which analyze all protein coding region of genes (exon) in a genome. This technique can be used to analyse 69 genes related with inherited Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). 

Compared with Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES) is the cost-effective testing. However, this technique cannot see all genetic changes and might miss some genetic portions which are not included in the Exon region.
 
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