Sickle Cell Anemia Mutation Analysis Symptoms
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SICKLE CELL ANEMIA MUTATION ANALYSIS
DESCRIPTION – sickle hemoglobin is a result of a point mutation in the beta globin chain. This point mutation replaces A with T at codon of beta hemoglobin chain. This causes the switch from glutamic acid to valine amino acid. The valine type hemoglobin causes red cells to sickle when exposed to a low oxygen threshold
METHODOLOGY – polymerase chain reaction (PCR)
TURN AROUND TIME – 8 days
PATIENT PREPARATION –
COLLECT – lavender (EDTA), pink (potassium EDTA), yellow (ACD solution A or B)
SPECIMEN PREPARATION – transport 3 ml whole blood
STORAGE/TRTANSPORT TEMPERATURE – refrigerated
STABILITY – ambient: 72 hours; refrigerated: 1 week
MRP – 3200
SPECIAL INSTRUCTIONS – clinical history is mandatory
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