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Test Description
The Genotype Test for Sickle Cell Disease is a genetic test used to determine the presence of sickle cell disease (SCD) or sickle cell trait. This test identifies the specific genetic mutations that cause Sickle Cell Disease.
What is Sickle Cell Disease (SCD)
Sickle cell disease is an abnormality of the red blood cells (RBCs). The cells contain an abnormal haemoglobin molecule (the substance that carries oxygen within the RBCs).
In certain circumstances, the red cells assume a crescent like structure (hence the term “sickle cell”). These misformed cells cannot carry oxygen as efficiently and get stuck in thesamll blood vessels.
This causes the symptoms associated with sickle cell disease.
In Kenya, the distribution of SCD mirrors that of malaria. Its highly prevalent in counties of the western part of the country.
What causes Sickle cell Disease?
A single mutation of the HBB gene, located on chromosome 11 is responsible for sickle cell disease. The inheritance of this mutation is heterozygous meaning to manifest the disease, genes from both parents are abnormal. When only one allele is abnormal, this is known as a carrier state (with no or very minimal expression of sickle cell disease symptoms
Learn more about Sickle Cell Disease.
Indications of the Genotype Test in Kenya
This test is indicated for individuals who are suspected of having SCD or sickle cell trait, including:
- Newborns as part of routine screening.
- Children and adults with symptoms such as anaemia, fatigue, paleness, shortness of breath, and periodic episodes of pain
- Individuals with a family history of SCD.
- Immigrants who have not been tested in their home countries
- People who have moved from one country to another and have not been tested
- Couples intending to get married in order to access the risk of having a sickle cell-cell disease child.
- Siblings of known SCD being considered as donor for bone marrow transplantation
Patient Preparation/Instructions
No special preparation is required for this test. However, it is recommended to avoid blood transfusions within 90 days of the test, as this can affect the accuracy of the results.
Outcomes of Genotype test
- Normal: No mutation detected
- Sickle cell Trait: Indicates the presence of sickle cell mutation in one allele
- Sickle cell Disease: Indicates the presence of sickle cell mutation on BOTH alleles of the HBB gene.
Turn Around Time for Genotype test
The turn-around time for this test varies depending on the laboratory and the urgency of the result. For newborn screenings, results may take up to two weeks. For adults, results can be available as quickly as seven working days.
How to Order Genotype Test for Sickle Cell Test
To order this test in Kenya, please click the ‘Order Test’ button and add it to your cart. One of our representatives will get back to you on the next steps.
