Procedure and Risks Involved In Albinism Genetic Testing

Submitted on March 27, 2012

Derived from the Latin term meaning white, albinism is a condition that is characterized by the complete or partial absence of pigment cells in the skin. While a fair complexion is something that a number of people crave, the extreme end of the spectrum, where albinism is located, is not something people desire. The pigmentation of the skin plays a very important role in guarding the skin against problems like skin cancer as well as skin cell augmentation. Both these conditions are influenced by the intensity of sunlight to which the skin is exposed. Albinism is also known to be associated with a number of vision defects including nystagmus, astigmatism and photophobia.

What is Albinism?

The condition is primarily considered to be a birth defect and is the result of an inability of the individual's body to create the normal amounts of melanin. One will notice that children suffering from albinism will usually have a very distinct eye color - most common being pink, reddish or blue. This is primarily because there is very little eye color present in the vessels within the eye. The condition is primarily a genetic one and, when a child is affected by the condition, the parents usually have an albinism chromosome in their systems without necessarily being affected by it themselves. Albinism testing is most effectively accomplished with genetic testing. However, the symptoms and signs are so prominent that albinism genetic testing is rarely required.

Procedure For Conducting a Albinism Test

Testing for albinism is primarily done by conducting a few tests on a sample of the patient's blood. The blood may be drawn out of the individual with the help of a syringe injected in the arm, just behind the elbow. Before the sample has been taken, the area where the syringe will puncture the skin is cleaned with the help of an alcohol pad and a leather strap is fastened at the top of the arm. This restricts blood circulation and makes the vein more prominent, thereby making it easier for the attending physician to draw the blood sample. Once the sample has been taken, the puncture site is then covered with a piece of cotton and some pressure applied in order to speed up the healing process.

Risks Associated

The risks associated with genetic testing for albinism include feeling light headed and weak just after the blood sample has been taken. There is also the likelihood of significant blood loss if you suffer from some other medical condition such as diabetes.