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Laboratory

Exult Diagnostics, Dr. Lal PathLabs, Metropolis Labs, Pathkind Labs

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SICKLE CELL ANEMIA MUTATION DETECTION

 3000 3500

EX1850      SICKLE CELL ANEMIA MUTATION DETECTION
Specimen: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Stability:
Room Refrigerated Frozen
6 hrs 1 week NA
Method: PCR, Sequencing
Comment: Samples received on holidays will be reported in the next schedule/next working day.
Report: Contact us to know the TAT.
Usage: 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 hemoglobin), the polymerization problems are minor, because the normal allele is able to produce over 50% of the hemoglobin. 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.
Doctor Specialty: Physician, Hematologist
Disease: Sickle cell anemia
Components: *HBB
Courier Charges:
Home Collection: Available (*T&C Apply)
Department: MOLECULAR DIAGNOSTICS
Pre Test Information: A duly filled Genomics Clinical information requisition form is mandatory.