Hereditary Spherocytosis - Gene Panel Test - EDTA Blood

This test measures:

• Genes like SLC4A1, ANK1, EPB42, SPTA1, and SPTB which are vital for red blood cell structure
• Mutations in these genes which can lead to hereditary spherocytosis, affecting red blood cell integrity and lifespan

• To diagnose hereditary spherocytosis accurately
• To understand the genetic basis of the condition for better treatment planning
• To assess the risk of passing on the condition to future generations

The Hereditary Spherocytosis-Gene Panel Test, EDTA Blood is recommended when:

• Individuals have a family history of hereditary spherocytosis
• There are symptoms such as jaundice, fatigue, or anemia that suggest the condition
• To evaluate treatment effectiveness for hereditary spherocytosis patients

Abnormal result indicates:

• Mutations in tested genes could indicate hereditary spherocytosis
• Increased risk of anemia and jaundice

Discuss results with your doctor for further evaluation and management

• A blood sample will be collected using an EDTA tube
• The sample will be analyzed using Next-Generation Sequencing (NGS) technology
• Results may take a few days to be processed and interpreted by healthcare providers

• Follow any fasting instructions provided by your healthcare provider
• Follow any specific instructions given by your healthcare provider
• Ensure you are well-hydrated before giving your blood sample

• Reticulocyte Count: To measure immature red blood cells in your bloodstream
• Direct Antiglobulin Test (DAT): To detect antibodies on the surface of red blood cells
• Osmotic Fragility Test: To evaluate how easily red blood cells break down

Gene Analysis Panel for Hereditary Spherocytosis or Red Blood Cell Gene Panel

Hereditary spherocytosis is a genetic disorder that affects the shape and function of red blood cells. It leads to anaemia, jaundice, and enlargement of the spleen, caused by mutations in genes that are responsible for maintaining the structural integrity of red blood cells