Previously published in Examiner
Part 2 of the Genetic testing for Amyotrophic Lateral Sclerosis (ALS) also known as Lou Gehrig’s Disease series
How is genetic testing for ALS performed
How genetic researchers will perform DNA testing, is that they will study the various chromosomes that are genetic markers for ALS.
Autosomal dominant genetic marker for ALS
Although there are 3 or more genetic markers, the most common pattern is called autosomal dominant, that means that either a female or male can inherit the disease because the trait is passed on by one of the two chromosomes (chromosomes are paired) that either parent having ALS could have. The chromosome is called dominant because only one parent needs to pass on the mutated gene. Statistically speaking that means a child would have a 50/50 chance of getting the disease. It also means that even if a parent has ALS they may not pass on the gene.
SOD1 genetic DNA Test
The chromosome affected in ALS disease is chromosome 21. This particular DNA test is called the SOD1 genetic DNA Test, which is a blood test. This DNA test will determine if the ALS is present in many cases, but it is still cannot identify ALS in families who do not have the SOD1 mutation. The test is a blood test, but since the test requires several stages of study, the completion of the test would take two to three months and the cost factor is between $300 – $500 depending upon the DNA testing laboratory chosen.
What happens if the genetic marker for ALS is not present?
In families where ALS is not hereditary, there is no DNA test to identify ALS at this time. People who will contract ALS this way have contracted what scientists call sporatic ALS or SALS. Often SALS occurs when there is an incomplete family history and it could not be determined if any other family members did have Amyotrophic Lateral Sclerosis.
The Tony Proudfoot Fund
Tony Proudfoot, former quarterback for the Montreal Allouettes of The CFL (Canadian Football League) was diagnosed with ALS in 2007. Proudfoot established the Tony Proudfoot Fund to provide funding for ALS research at the Montreal Neurological Institute , support for ALS sufferers and their families at the ALS Society of Quebec, and to generate public awareness about the disease.