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Test Code (รหัสการทดสอบ):
092-10-0001

Order Name (ชื่อการทดสอบ):
DNA Analysis for Alpha Thalassemia

 
Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ K3 EDTA (Lavender Top) 3 mL, 1 tube

Document required
Consent for Genetic Testing (LAB-08171)
 
Turnaround Time (ระยะเวลารอผล):
Within 10 days
Tested every Tuesday Receive before 08:00 a.m. Report 18:00 p.m.
 
Useful For (ประโยชน์การทดสอบ):
Identification of 9 alpha-thalassemia mutations that consist of 7 deletion and 2 point mutation.
- Alpha-thalassemia 1 (--SEA, --THAI, --FIL, --MED, -α20.5)
- Alpha-thalassemia 2 (-α3.7, -α4.2)
- Constant Spring (Hb CS) αCS and Hb Pakse (Hb PS) αPS
 
Methodology (วิธีการทดสอบ):
Multiplex GAP PCR and Allele-specific PCR
 
AliasesName (ชื่อเรียกอื่นๆ) :
PCR for Alpha Thalassemia
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0001

Order Name (ชื่อการทดสอบ):
DNA Analysis for Alpha Thalassemia

 
Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ K3 EDTA (Lavender Top) 3 mL, 1 tube

Document required
Consent for Genetic Testing (LAB-08171)
 
Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):
Whole blood EDTA, K3 EDTA (Lavender Top) 3 mL, 1 tube, minimum volume 1.5 ml
 
Sub Mission Container (ภาชนะส่งตรวจ):
K3 EDTA (Lavender Top)
 
Rejection Criteria (เกณฑ์ปฏิเสธสิ่งส่งตรวจ):
Use heparin as anticoagulant, Severe clotted specimen
 
Specimen Stabillity (ความคงตัวของสิ่งส่งตรวจ):
Specimen Type Temperature Time
Whole blood, EDTA Refrigerated, 2oC to 8oC 7 days
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0001

Order Name (ชื่อการทดสอบ):
DNA Analysis for Alpha Thalassemia

 
Method detail (วิธีการทดสอบ):
Multiplex GAP PCR and Allele-specific PCR
 
Schedule (ตารางการทดสอบ):
Every Tuesday
 
Turnaround Time (ระยะเวลารอผล):
Within 10 days
Tested every Tuesday Receive before 08:00 a.m. Report 18:00 p.m.
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
Research and Development Tel. 14252
 
Specimen Retention Time (ระยะเวลาเก็บสิ่งส่งตรวจ):
3 months
 
 
 
Test Code (รหัสการทดสอบ):
092-10-0001

Order Name (ชื่อการทดสอบ):
DNA Analysis for Alpha Thalassemia

 
 
Clinical Information (ข้อมูลทางคลินิก):
Alpha-thalassemia is an inherited condition that have defect in hemoglobin synthesis produces a hypochromic, microcytic anemia. Affected individuals have premature red blood cell destruction which can cause pale skin, weakness, fatigue, and more serious complications. Alpha-thalassemia is caused by decreased synthesis of alpha-globin chains. Four alpha-globin genes are normally present (2 on each chromosome 16). One, 2, 3, or 4 alpha-globin genes may be deleted or, less commonly, contain mutations. Deletions account for approximately 90% of disease-causing alleles in alpha thalassemia. The 7 most common including --SEA, --THAI, --FIL, --MED, -α3.7, -α4.2 and -α20.5 are tested by this assay. Less frequently, alpha-thalassemia results from single point mutations. The most common nondeletion mutation in Thailand is hemoglobin Constant Spring (HbCS) and hemoglobin Pakse (HbPS). Point mutations other than HbCS and HbPS are not detected by this assay.
 
Reference Value (ค่าอ้างอิง):
Not found
 
Clinical Reference (เอกสารอ้างอิง):
  1. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia.; Tan AS, Quah TC, Low PS, Chong SS.; Blood. 2001 Jul 1;98(1):250-1.; PMID: 11439976
  2. https://ghr.nlm.nih.gov/condition/alpha-thalassemia#diagnosis (Retrieved 30 Jan 2019)
  3. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/35346 (Retrieved 1 Feb 2019)