EURORealTime APOE testing
Apolipoprotein E (ApoE) is a component of various lipoproteins such as VLDL, LDL and HDL to transport lipids in the blood and central nervous system (CNS). In the CNS, ApoE is mainly involved in nerve growth and regeneration. It binds amyloid-β peptides and plays a role in their degradation. Accumulation and deposition of amyloid-β peptides in CNS is known to be a molecular cause of Alzheimer's disease.
Three alleles of the APOE gene, ε2, ε3, and ε4, give rise to the major ApoE isoforms, which differ by 2 amino acids: ApoE2 contains Cys112/Cys158, ApoE3 Cys112/Arg158, and ApoE4 Arg112/Arg158. There are 3 homozygous phenotypes (E2/2, E3/3, E4/4) and 3 heterozygous (E2/3, E3/4, E2/4).
The EURORealTime APOE test provides qualitative molecular testing of the e2/e2, e2/e3, e3/e3, e2/e4, e3/e4 and e4/e4 genotypes in the APOE gene by real-time PCR. The product can be used as an aid in the proactive evaluation of risk factors for the anti-amyloid-beta (Aβ) antibody treatment in patients with Alzheimer's disease.
Friedreich Ataxia (FRDA) diagnostic testing
This assay determines the presence or absence of homozygous GAA triplet repeat expansion in intron 1 of FXN gene.
The DNA surrounding the GAA repeat in the FXN gene is amplified by long-range PCR followed by e-gel electrophoresis. All normal sized alleles and a vast majority of the expanded alleles will be detected in this analysis.
Premade library sequencing services
Our premade library sequencing service is designed to provide researchers with flexible and affordable access to high-quality flow cells for their sequencing projects without the need for significant upfront investment in equipment.
Whether you're working on genomic, or other sequencing applications, our premade library sequencing service ensures you have cutting edge technology at your disposal, backed by our expert technical support to help you achieve reliable results.
Fluorescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) identifies targeted regions on chromosomes using specific fluorescent-tagged DNA probes thus enabling detection of various numerical and structural chromosomal aberrations.
This analysis helps rapidly identify chromosomal aneuploidies like trisomies 13, 18 and 21, microdeletion syndromes like DiGeorge syndrome (22q microdeletion) and other chromosomal rearrangements like translocations.
Acceptable sample types include but are not limited to:
- Chorionic Villi
- Amniotic Fluid
- Fetal Blood