Genetic Testing – Final Result

Test results from: 7/19/2007 (yeah 2 years ago, when I was in the
hospital!) Yes I got today, 4/23/2009!

“The sample is heterozygous for factor V Leiden, R506Q polymorphism.”

Heterozygous, means I got the clotting defect from ONE parent, but
not both. The test does NOT say which parent.

“The facor V Leiden mutation is the most common genetic risk factor
for thrombosis (blood clot) and accounts for greater then 90% of
cases with APC (tumour suppressor gene) resistance. Inherited
thrombosis due to APC resistance is considered autosomal (any
chromosome, other then sex chromosome) dominant disease;
heterozygote carriers of the factor V Leiden polymorphism (shape)
have an increased risk of thrombosis (blood clots) of 5 to 10 fold, and
homozygotes have a 50-100 fold increase risk. Estimated penetrance
(frequency) for homozygotes is close to 80 % with a reduced
penetrance for heterozygotes (approximately 12-20 %)”

Translation: I inherited from ONE parent (heterozygous) not both. I am only 5 fold increase instead of 50 fold.

All told – while not great news, it could have been much worse.

I am NOT responsible for the outcome.