Counsyl Kit Results – Pre Genetic Testing
Tuesday, June 19, 2012
Today I had a consultation with Katherine Davis about the Counsyl Kit testing Pete and I did a couple of weeks ago. The Counsyl Kit does take our blood work and runs both of them for any type of diseases. Here is the website for the Counsyl Kit https://www.counsyl.com/
Katherine the genetic counselor said all looked good expect I am a carrier for Gaucher disease. On Pete’s blood work he was %60 in the clear. To make sure Pete is not a carrier we need to do some more extensive blood work on that gene. We are in process of checking with insurance to see if they will cover the other blood work that is needed. If insurance does not cover the blood work it will be around $650 to get it done.
Below is a description of Gaucher disease
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded. Normally, the body makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside – a normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous system interfering with normal functioning.
There are three recognized Types of Gaucher disease and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear early in life or adulthood. Many people with Type 1 Gaucher disease have findings that are so mild that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 causes serious medical problems beginning in infancy, while Type 3 progresses more slowly than Type 2.There are also other more unusual forms that are hard to categorize within the three Types.
Gaucher disease is caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person who has Gaucher disease inherits a mutated copy of the GBA gene from each of his/her parents.
Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 individuals in the general population. Type 1 is found more frequently among individuals who are of Ashkenazi Jewish ancestry. Type 1 Gaucher disease is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14 Ashkenazi Jews is a carrier. Type 2 and Type 3 Gaucher disease are not as common.
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