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Test Code:
092-10-0001

Order Name:
DNA Analysis for Alpha Thalassemia

 
Useful For:
Identification of 9 alpha-thalassemia mutations that consist of 7 deletion and 2 point mutation (--SEA, --THAI, --FIL, --MED, -α3.7, -α4.2, -α20.5, αCS and αPS).
 
Methodology:
Multiplex GAP PCR and Allele-specific PCR
 
AliasesName:
PCR for Alpha Thalassemia
 
 
 
Test Code:
092-10-0001

Order Name:
DNA Analysis for Alpha Thalassemia

 
Collection Specimen Or Container:
Blood/ K3 EDTA (Lavender Top) 3 mL, 1 tube
 
Specimen Testing Type:
Whole blood EDTA, K3 EDTA (Lavender Top) 3 mL, 1 tube, minimum volume 1.5 ml
 
Sub Mission Container:
K3 EDTA (Lavender Top)
 
Rejection Criteria:
Use heparin as anticoagulant, Severe clotted specimen
 
Specimen Stabillity:
Specimen Type Temperature Time
Whole blood, EDTA Refrigerated, 2oC to 8oC 7 days
 
 
 
Test Code:
092-10-0001

Order Name:
DNA Analysis for Alpha Thalassemia

 
Method detail:
Multiplex GAP PCR and Allele-specific PCR
 
Schedule:
Tested every Monday, start at 08:00 a.m.
 
Turnaround Time:
Received specimen to reported within 7-10 days
 
Performing Location:
Research and Development Tel. 14252
 
Specimen Retention Time:
3 months
 
 
 
Test Code:
092-10-0001

Order Name:
DNA Analysis for Alpha Thalassemia

 
 
Clinical Information:
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:
Not found
 
Clinical Reference:
  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)