The HbS (c.20A>T) mutation is the most severe mutation associated with sickle cell disease. If two copies of HbS are inherited, the most severe form of the disease (sickle cell anemia) will occur. If only one copy of HbS and one copy of a different mutation (HbC or HbE) is inherited, the disease symptoms are [...]
The mutation that results in the production of HbS is c.20A>T. The mutation that results in the production of HbC is c.19G>A. The mutation that results in the production of HbE is c.79G>A. Each mutation changes the amino acid sequence of the hemoglobin protein.
The HBB gene encodes the β-globin component of hemoglobin. Mutations in this gene affect the shape and functionality of hemoglobin.
The most severe form of sickle cell disease is HbSS or sickle cell anemia. Other forms of sickle cell diseases include HbSC and HbSE diseases, which generally have less severe symptoms than HbSS disease. Sickle cell mutations can also be inherited with beta thalassemia mutations, resulting in sickle/beta thalassemia disorders of varying severity.
Sickle cell disease prevalence varies around the world. It is highest in sub-Saharan Africa affecting 1 in 500 people. It is one of the more common blood disorders in the US affecting around 100,000 people.
Yes. Sickle cell disease is caused by specific mutations in the HBB gene that can be passed from generation to generation.
You can choose to receive your results report by mail, email or both. The test includes one copy of the results by mail and one copy by email at no charge. The results report is issued immediately once the testing is completed.
Yes, your results are 100% confidential. No one will be able to access your account or your results unless you give them your confidential account login. You can change the password to your account at any time. Please remember to safeguard your login information and not share it with anyone.
The DNA testing kit does not have an expiry date so you can use the kit at any time. Once the DNA sample is collected, the sample should be returned to the laboratory for testing within 3 months of the collection date. The DNA sample will remain stable for 3 months at room temperature after [...]
If your sample contains intact DNA, then a full DNA profile will be obtained. However, if your sample does not contain DNA or contains degraded DNA, then only a partial profile or no profile at all is obtained. Even if no profile is obtained, the cost still applies for each sample that is submitted.