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Genotype Blood Test

Fusion Healthcare now offer Genetic (genotype) blood test, otherwise known as genomic testing. Genetic testing allows for identification of changes in genes that may cause health problems. This test proves helpful in diagnosing inherited health conditions.

Every individual has a unique genotype. The genotype is the biological coding which ensures this uniqueness. Genetic testing blood tests analyse a sample of the blood to uncover information about an individual’s genetic composition. This involves examination of specific regions of the DNA for any mutations or variations which may indicate a predisposition to certain health conditions.

This test allows partners to evaluate the risk of their offspring having sickle cell disease and provides valuable information to plan and prepare for the future. Sickle cell disease is particularly common in people with an African or Caribbean background.

When you need genotype blood test?

  • Having a child

Partners should know and share information about each other’s blood genotype and blood group as this can serve as an important forecasting guide for offspring’s genotype, quality of life & overall health. Carrier screening tests identify whether you carry genetic mutations associated with inherited conditions that you could pass on to your children. This type of testing is particularly relevant for individuals planning to start a family, as it can inform decisions about family planning and prenatal care.

  • Knowing each other

It is important to equip yourself with valuable information when you are with a partner. Knowing each other’s blood genotype may be fundamental in making decisions and preparing for the future.

The importance of Genotype blood test

There are typically 5 distinct genotypes. These consist of: AA, AS, AC, SS, and SC. While the first 2 pairs (AA & AS) are normal, AC is rare and the latter two (SS, SC) are irregular and anomalous, commonly causing sickle cell disease. 

Sickle cell disease occurs when an individual’s blood cells are shaped in a deformed and abnormal manner, potentially blocking blood flow, causing pain and damage to vital organs. Normally, the red blood cells are round and flexible and can move easily through blood vessels, however, in sickle cell disease, the red blood cells are shaped like sickles. These rigid, sticky sickled cells can get stuck in small blood vessels thereby slowing (or blocking) blood flow and oxygen supply to parts of the body.

Why is knowing your genotype useful?

Blood genotype (yours & that of your partner) is a key component to consider before making the decision on a life partner. It is key because a father and mothers genotype ultimately crosses to determine that of the offspring. Equipping yourself with the right information about genotype compatibility will help you make the best quality of life decision(s) where marriage & conception is concerned. This can help you avert the devastating effects that can ensue from sickle cell disease and by extension improve your quality of life. Additionally, it provides you valuable information about your own health and what you carry.

Compatibility of genotypes

The AA genotype has the best compatibility ratio. An individual with the AA genotype can choose a life partner from virtually all other genotype categories with an extremely minimal possibility of sickle-celled offspring. The AS genotype is best compatible with the AA. A genotypic pairing of AS with AS or AS with AC poses an increased chance of sickle-celled offspring. Similarly, a pairing between AS and SS or the AC and SS is equally as risky and ill-advised, while a pairing of two sickle-celled individuals will almost certainly result in sickle-celled offspring.   

Management

Sickle cell disease usually requires lifelong treatment. Children and adults with sickle cell disease are supported by a team of different healthcare professionals. This team work with their patients to come up with an individual care plan which considers all needs and health concerns.

Recent research however reveals that specialized bone marrow or stem cell transplants can be used to cure the ailment. A bone marrow transplant is the only known cure for sickle cell disease. It involves replacing the abnormal stem cells residing in the one marrow with healthy cells from an eligible donor (usually a brother or sister). The risks involved in this procedure are however high and as such the procedure is rarely performed, especially in third world countries.

Individuals with sickle cell disease are advised on how best to prevent painful episodes (sickle cell crisis). Some recommendations include:

  • Taking over counter painkillers
  • Drinking plenty of water
  • Warm compress on the affected body part
  • Distractions

This test proves highly beneficial in future planning and management for couples who intend to have a family. It may allow you and your partner to make better preparations for your future together. 

If you would like more information, please contact us.

Price: £125

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