Alpha Thalassemia MLPA

TEST CODE MG07710
TEST NAME Alpha Thalassemia MLPA
RELATED GENE HBA1,HBA2,LUC7L,ITFG3,RGS11,AXIN1,DECR2
SYNONYMOUS HBA1,HBA2,LUC7L,ITFG3,RGS11,AXIN1,DECR2
OMIM 604131
HEREDITY Autosomal Dominant/Autosomal Recessive
CLINICAL AREA Alpha thalassemia is an autosomal dominant and recessive disease. Mutations in the HBA1 and HBA2 genes have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method.
METHOD MLPA
SAMPLE TYPE Blood with EDTA-CVS
QUANTITY 3 mL
TAT 40 DAYS

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