Despite some ridiculous legal obstacles in this country, we are finally able to set up some proper genetic tests. I need to update myself on these tests – and what better way than to do it while blogging about them at the same time.

We are setting up 8 tests in this first stage of expansion, which I plan to cover in 5-6 posts.

1. Familal Hypercholesterolemia. A disease leading to highly elevated levels of cholesterol and increased risk of heart disease (good review here). Rough numbers: heterozygosity 1:500, homozygosity 1:1000000. Multiple genetic variations (SNPs, insertions/deletions) in LDL-receptor gene. Preferred analytical method: sequencing or genotyping (real-time PCR) a selection of genetic variants.

Normal function of the hepatic low-density lipoprotein (LDL) receptor is obligate for normal levels of plasma LDL cholesterol. The LDL receptor regulates the concentration of plasma LDL cholesterol by internalizing apolipoprotein B-100- and apolipoprotein E-containing lipoproteins by receptor-mediated endocytosis. Mutations in the gene encoding the LDL receptor protein give rise to one of the most common classical autosomal dominant inherited disorders in man, familial hypercholesterolemia (FH). The estimated prevalence of heterozygous FH is 0.2% (1:500) in most populations of the world. – from here

In addition to LDL-receptor mutation analysis (which will take a little while to set up) we’ll be doing SNP-analysis for ApoB-100. One SNP-assay of R3500Q in the ApoB-100 gene.

Familial defective apolipoprotein B (FDB) caused by the R3500Q apolipoprotein B gene mutation may mimic FH but the clinical course, however, is often milder than that seen in patients with LDL receptor gene mutations. -from here

Tests to follow: Thrombophilia, Hemochromatosis, Lactose intolerance, Osteoporosis, Macular degeneration and Crohn’s Disease.