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M424 : Alpha Thalassemia Comprehensive (7 deletions + 22 point mutations) [BML]

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Test Code
M424
Test Name
Alpha Thalassemia Comprehensive (7 deletions + 22 point mutations) [BML]
Department
Bio - Molecular Laboratory
Sample Type/Volume
EDTA Blood 3-5 mL
Storage Condition
Room temperature (1 day), 2-8°C (1 month)
Collection Remark
EDTA Blood should be shipped cooled (2-8°C).
Principle
Multiplex Gap PCR for detection of Alpha Thalassemia 1;2 and PCR/sequencing for 22 non-deletion mutations
Method
Multiplex GAP PCR for 7 common deletions and direct sequencing for 22 non-deletion mutations
Reference Range
-
Clinical
1. Screening alpha thalassemia carriers to prevent Hb Bart’s Hydrop fetalis and Hb H disease
2. Identify alpha thalassemia deletions in Hb H disease cases and other carriers of alpha thalassemia deletions
(7 deletions)
  • Alpha-thalassemia 1 (--SEA) PCR
  • Alpha-thalassemia 1 (--THAI ) PCR
  • Alpha-thalassemia 1 (--MED) PCR
  • Alpha-thalassemia 1 (--FIL) PCR
  • Alpha-thalassemia 1 (-20.5 kb) PCR    
  • Alpha-thalassemia 2 (-3.7 kb) PCR
  • Alpha-thalassemia 2 (-4.2 kb) PCR                                                                        
3. Identify alpha thalassemia 20 non-deletional mutations 
  • Hb Constant Spring (HBA2 c.427T>C)
  • Hb Pakse (HBA2 c.429A>T)
  • Hb Pak Nam Po (HBA1 c.396_397insT)
  • Hb Queen (HBA1/HBA2 c.104T>G)
  • Hb J-Buda (HBA2/HBA1 c.186G>C or c.186G>T)
  • Hb Q-Iran (HBA1/HBA2 c.226G>C)
  • Hb Quong Sze (HBA2 c.377T>C)
  • Hb Q-India (HBA1 c.193G>C)
  • Hb Q-Thailand (HBA1 c.223 G>C)
  • Hb Siam or Ottawa (HBA1 c.46G>C)
  • Hb St.Luke’s (HBA1 c.287C>G)
  • Hb Thailand (HBA1/HBA2 c.170A>C)
  • Hb Beijing (HBA1/HBA2 c.51G>C/T)
  • Hb Dunn (HBA1/HBA2 c.19G>A)
  • Hb G-Honolulu (HBA1/HBA2 c.91G>C)
  • Hb Hekinan I (HBA2 c.84G>C)
  • Hb Hekinan II (HBA1 c.84G>T)
  • Hb J-Wenchang-Wuming (HBA1/HBA2 c.34A>C)
  • Hb Nakhon Ratchasima (HBA2 c.191C>T)
  • Hb Phnom Penh (HBA1 p.F118_T119insI)
  • HBA2 Codon 30 (c.91_93delGAG)
  • HBA2 Codon 37 (c.114delC)
Turnaround Time
10 days
Operation Schedule
Daily