SEQPRO LIPO IS CE Mark is Progenika’ solution for Familial Hypercholesterolemia genetic diagnosis for Next Generation Sequencing ILLUMINA® MiSeq equipment.
Autosomal Dominant Hypercholesterolemia (ADH) is caused by mutations in LDLR, APOB, PCSK9, APOE and STAP1 genes, while Autosomal Recessive
Familial Hypercholesterolemia (ARH) is caused by mutations in the LDLRAP1 gene. Progenika’s new SEQPRO LIPO IS for ILLUMINA detects them all for an accurate diagnosis.
References:
1. World Health Organization. Human Genetic Program. Familial Hypercholesterolemia, report of a WHO consultation. WHO/HGN/FH/CONS//98.7 Paris; October 1997.
2. Van Aalst-Cohen et al. Diagnosing Familial Hypercholestrolemia: the relevance of genetic testing. European Heart Journal 2006; 27:2240-2246.
3. Leren et al. Cascade genetic screening for Familial Hypercholesterolemia. Clin Genet 2004; 66:483-487.
4. Junyent et al. Impact of low density lipoprotein receptor mutational class on carotid atherosclerosis in patients with Familial Hypercholesterolemia. Atherosclerosis 2010; 208:437-441.
5. Umans-Eckenhausen et al. Long Term Compliance With Lipid-Lowering medication After Genetic Screening for Familial Hypercholesterolemia. Arch Intern Med 2003; 163:65-68.
6. Wonderling et al. Cost-effetiveness analysis of the genetic screening program for Familial Hypercholesterolemia in the Netherlands. Semin Vasc Med 2004; 4:97-104.
*(Frederick J. Raal et al. Inhibition of PCSK9 with evolocumab in homozygous Familial Hypercholesterolemia (TESLA Part B): a randomized, double-blind, placebo controlled trial. Lancet: 2015; 385;341-50).
CE MARK.
SEQPRO LIPO IS® is manufactured at Progenika Biopharma, S.A. Facilities in Derio, (Spain) under a QMS certified by TÜV SÜD on ISO 13485: 2016 and MDSAP.