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Order Name (ชื่อการทดสอบ):
Whole Exome Sequencing (WES)-Solo

 
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):
Report within 6-8 weeks
 
Useful For (ประโยชน์การทดสอบ):
•Patient with broad spectrum of symptoms/phenotypes without an obvious clinical diagnosis
•Patient who have done prior genetic testing but can not find a conclusive diagnosis
 
Methodology (วิธีการทดสอบ):
Next generation sequencing (NGS),
Whole exome sequencing (WES)
 
AliasesName (ชื่อเรียกอื่นๆ) :
WES, rare disease, genetic
 
 
Order Name (ชื่อการทดสอบ):
Whole Exome Sequencing (WES)-Solo

 
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°C to 8°C for 7 days
 
 
Order Name (ชื่อการทดสอบ):
Whole Exome Sequencing (WES)-Solo

 
Turnaround Time (ระยะเวลารอผล):
Report within 6-8 weeks
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
Research and Development Tel. 14252
 
Specimen Retention Time (ระยะเวลาเก็บสิ่งส่งตรวจ):
3 years
 
 
Order Name (ชื่อการทดสอบ):
Whole Exome Sequencing (WES)-Solo

 
 
Clinical Information (ข้อมูลทางคลินิก):
Whole Exome Sequencing (WES)-Solo test is the very large scale of genetic test which analyze all protein coding region of genes (exon) in a genome. Using this technique can be used to find the cause of genetic disease, especially in the patient with a broad spectrum of symptoms/phenotypes such as Early onset or intractable epilepsy, Intellectual disability, Inborn errors of metabolism, Musculoskeletal disorders, including neuromuscular, skeletal dysplasia and abnormal growth, and connective tissue disorders. 

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.