Sickle Cell Anemia Mutation Analysis

This test measures specific genetic mutations associated with Sickle Cell Anaemia, specifically the HbS variant.

• To confirm a diagnosis of Sickle Cell Anaemia • To identify individuals who carry the Sickle Cell Trait • To assess the risk of passing on Sickle Cell Anaemia to offspring • To provide genetic counselling and guidance for family planning decisions

This test is recommended in the following situations: • Newborn screening programs for high-risk populations • Individuals with a family history of Sickle Cell Anaemia • Couples planning to have children, especially if both partners carry the Sickle Cell Trait • Individuals with symptoms suggestive of Sickle Cell Anaemia, such as chronic anaemia, pain crises, and organ damage

The presence of specific genetic mutations associated with Sickle Cell Anaemia indicates a positive test result. Abnormal results suggest an increased risk of developing or passing on the disorder.

A sample of 3–5 ml of EDTA whole blood will be collected. The sample will be sent to the laboratory for analysis using the Sanger Sequencing method.

• Provide your clinical history, HPLC report, CBC findings, and clinical/family history. • Inform your doctor if you have any specific requirements.

• Haemoglobin Electrophoresis: This test helps determine the exact type of haemoglobin present in the blood. • Complete Blood Count (CBC): This test evaluates various components of blood, such as red blood cells, white blood cells, and platelets.

Sickle Cell Gene Analysis or Sickle Cell Genetic Testing

Sickle Cell Anaemia is a genetic blood disorder characterised by abnormal haemoglobin production, causing red blood cells to become sickle-shaped. These deformed cells can block blood vessels, leading to pain, organ damage, and other complications.