Ataxia Telangiectasia Chromosomal Analysis Test

Ataxia-telangiectasia (A-T) is an autosomal recessive neurogenetic condition characterized by progressive cerebellar ataxia, telangiectasias, and an increased risk for a variety of cancers in childhood. Carriers have an increased risk to develop cancer in adulthood and there is a predisposition to early onset malignancy, especially leukemia and lymphoma, although solid tumors also occur with increased frequency. A-T patients may have elevated alpha-fetoprotein (AFP). Their cells demonstrate sensitivity to ionizing radiation and chromosomal breakage. Genetic testing via a whole blood sample is carried out to diagnose this condition.

It is recommended that you should either wear a sleeve-less or a short-sleeved shirt to make it easier for you and the technician who will be drawing the blood. Wearing a shirt with full- sleeves that can easily be rolled-up is also fine. No special preparation is required for this test.

A-T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents repair of broken DNA, increasing the risk of cancer Symptoms most often first appear in early childhood (the toddler stage) when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting, and may appear almost as if they are drunk. In late pre-school and early school age, they develop difficulty moving their eyes in a natural manner from one place to the next (oculomotor apraxia). Most children with A-T have stable neurologic symptoms for the first 4–5 years of life, but begin to show increasing problems in early school years.

A band is wrapped around the arm, 3-4 inches above the collection site (superficial vein that lies within the elbow pit) A 70% alcohol pad is used to clean the skin A needle is then kept in line with and injected into a vein that can be seen from the skin The blood is dragged out from the needle by a nozzle, saved in a vessel and sealed with your name The sample is then taken to a lab for examination