SICKLE CELL ANEMIA MUTATION DETECTION
The genetic disorder is due to the mutation of a single nucleotide, from a GAG to GTG codon on the coding strand. In people heterozygous for HgbS (carriers of sickling haemoglobin), the polymerisation problems are minor, because the normal allele is able to produce over 50% of the haemoglobin. In people homozygous for HgbS, the presence of long-chain polymers of HbS distort the shape of the red blood cell from a smooth doughnut-like shape to ragged and full of spikes, making it fragile and susceptible to breaking within capillaries.
Parameter(s) covered : 1
Report Frequency: Sample Mon by 11 am; Report Fri
Special Instruction: Physician prescription is mandatory.
Price : ₹ 3200.00
Parameters
- SICKLE CELL ANEMIA MUTATION ANALYSIS